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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations</title><author><name sortKey="Bladen, Catherine L" sort="Bladen, Catherine L" uniqKey="Bladen C" first="Catherine L" last="Bladen">Catherine L. Bladen</name><affiliation><nlm:aff id="au1"><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></nlm:aff></affiliation></author><author><name sortKey="Salgado, David" sort="Salgado, David" uniqKey="Salgado D" first="David" last="Salgado">David Salgado</name><affiliation><nlm:aff id="au2"><institution>Aix Marseille Université, Inserm</institution><addr-line>GMGF UMR_S 910, Marseille, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Monges, Soledad" sort="Monges, Soledad" uniqKey="Monges S" first="Soledad" last="Monges">Soledad Monges</name><affiliation><nlm:aff id="au3"><institution>Hospital de Pediatría J. P. Garrahan</institution><addr-line>Pichincha, Argentina</addr-line></nlm:aff></affiliation></author><author><name sortKey="Foncuberta, Maria E" sort="Foncuberta, Maria E" uniqKey="Foncuberta M" first="Maria E" last="Foncuberta">Maria E. Foncuberta</name><affiliation><nlm:aff id="au3"><institution>Hospital de Pediatría J. P. Garrahan</institution><addr-line>Pichincha, Argentina</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kekou, Kyriaki" sort="Kekou, Kyriaki" uniqKey="Kekou K" first="Kyriaki" last="Kekou">Kyriaki Kekou</name><affiliation><nlm:aff id="au4"><institution>Department of Medical Genetics, Medical School, University of Athens</institution><addr-line>Athens, Greece</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kosma, Konstantina" sort="Kosma, Konstantina" uniqKey="Kosma K" first="Konstantina" last="Kosma">Konstantina Kosma</name><affiliation><nlm:aff id="au4"><institution>Department of Medical Genetics, Medical School, University of Athens</institution><addr-line>Athens, Greece</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="au5"><institution>Choremio Research Laboratory, St. Sophia's Children's Hospital Thinon and Levadia Goudi</institution><addr-line>Athens, Greece</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dawkins, Hugh" sort="Dawkins, Hugh" uniqKey="Dawkins H" first="Hugh" last="Dawkins">Hugh Dawkins</name><affiliation><nlm:aff id="au6"><institution>Department of Health, Office of Population Health Genomics</institution><addr-line>Perth, Western Australia, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lamont, Leanne" sort="Lamont, Leanne" uniqKey="Lamont L" first="Leanne" last="Lamont">Leanne Lamont</name><affiliation><nlm:aff id="au6"><institution>Department of Health, Office of Population Health Genomics</institution><addr-line>Perth, Western Australia, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Roy, Anna J" sort="Roy, Anna J" uniqKey="Roy A" first="Anna J" last="Roy">Anna J. Roy</name><affiliation><nlm:aff id="au7"><institution>WIV-ISP</institution><addr-line>Juliette Wytsman 14, Brussels, Belgium</addr-line></nlm:aff></affiliation></author><author><name sortKey="Chamova, Teodora" sort="Chamova, Teodora" uniqKey="Chamova T" first="Teodora" last="Chamova">Teodora Chamova</name><affiliation><nlm:aff id="au8"><institution>Department of Neurology, Medical University-Sofia</institution><addr-line>Sofia, Bulgaria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Guergueltcheva, Velina" sort="Guergueltcheva, Velina" uniqKey="Guergueltcheva V" first="Velina" last="Guergueltcheva">Velina Guergueltcheva</name><affiliation><nlm:aff id="au8"><institution>Department of Neurology, Medical University-Sofia</institution><addr-line>Sofia, Bulgaria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Chan, Sophelia" sort="Chan, Sophelia" uniqKey="Chan S" first="Sophelia" last="Chan">Sophelia Chan</name><affiliation><nlm:aff id="au9"><institution>Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong</institution><addr-line>Pok Fu Lam, Hong Kong</addr-line></nlm:aff></affiliation></author><author><name sortKey="Korngut, Lawrence" sort="Korngut, Lawrence" uniqKey="Korngut L" first="Lawrence" last="Korngut">Lawrence Korngut</name><affiliation><nlm:aff id="au10"><institution>Department of Clinical Neurosciences and Hotchkiss Brain Institute, University of Calgary</institution><addr-line>Calgary, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Campbell, Craig" sort="Campbell, Craig" uniqKey="Campbell C" first="Craig" last="Campbell">Craig Campbell</name><affiliation><nlm:aff id="au11"><institution>Department of Paediatrics, Clinical Neurological Sciences & Epidemiology, Western University</institution><addr-line>London, Ontario, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dai, Yi" sort="Dai, Yi" uniqKey="Dai Y" first="Yi" last="Dai">Yi Dai</name><affiliation><nlm:aff id="au12"><institution>Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences</institution><addr-line>Beijing, P. R. China</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wang, Jen" sort="Wang, Jen" uniqKey="Wang J" first="Jen" last="Wang">Jen Wang</name><affiliation><nlm:aff id="au13"><institution>Department of Neurology, China Dolls, the General Hospital of Chinese Armed Police Forces, Haidian</institution><addr-line>Beijing, P. R. China</addr-line></nlm:aff></affiliation></author><author><name sortKey="Barisi, Nina" sort="Barisi, Nina" uniqKey="Barisi N" first="Nina" last="Bariši">Nina Bariši</name><affiliation><nlm:aff id="au14"><institution>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School</institution><addr-line>Croatia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Brabec, Petr" sort="Brabec, Petr" uniqKey="Brabec P" first="Petr" last="Brabec">Petr Brabec</name><affiliation><nlm:aff id="au15"><institution>Institute for Biostatistic and Analyses, Masaryk University</institution><addr-line>Brno, Czech Republic</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lahdetie, Jaana" sort="Lahdetie, Jaana" uniqKey="Lahdetie J" first="Jaana" last="Lahdetie">Jaana Lahdetie</name><affiliation><nlm:aff id="au16"><institution>Department of Child Neurology, Turku University Central Hospital</institution><addr-line>Turku, Finland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Walter, Maggie C" sort="Walter, Maggie C" uniqKey="Walter M" first="Maggie C" last="Walter">Maggie C. Walter</name><affiliation><nlm:aff id="au17"><institution>Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich</institution><addr-line>Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Schreiber Katz, Olivia" sort="Schreiber Katz, Olivia" uniqKey="Schreiber Katz O" first="Olivia" last="Schreiber-Katz">Olivia Schreiber-Katz</name><affiliation><nlm:aff id="au17"><institution>Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich</institution><addr-line>Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Karcagi, Veronika" sort="Karcagi, Veronika" uniqKey="Karcagi V" first="Veronika" last="Karcagi">Veronika Karcagi</name><affiliation><nlm:aff id="au18"><institution>Department of Molecular Genetics and Diagnostics, NIEH</institution><addr-line>Budapest, Hungary</addr-line></nlm:aff></affiliation></author><author><name sortKey="Garami, Marta" sort="Garami, Marta" uniqKey="Garami M" first="Marta" last="Garami">Marta Garami</name><affiliation><nlm:aff id="au18"><institution>Department of Molecular Genetics and Diagnostics, NIEH</institution><addr-line>Budapest, Hungary</addr-line></nlm:aff></affiliation></author><author><name sortKey="Viswanathan, Venkatarman" sort="Viswanathan, Venkatarman" uniqKey="Viswanathan V" first="Venkatarman" last="Viswanathan">Venkatarman Viswanathan</name><affiliation><nlm:aff id="au19"><institution>CHILDS Trust Medical Research Foundation and Apollo Children's Hospital</institution><addr-line>Chennai, India</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bayat, Farhad" sort="Bayat, Farhad" uniqKey="Bayat F" first="Farhad" last="Bayat">Farhad Bayat</name><affiliation><nlm:aff id="au20"><institution>Pasteur Institute of Iran</institution><addr-line>Karaj complex, Tehran, Iran</addr-line></nlm:aff></affiliation></author><author><name sortKey="Buccella, Filippo" sort="Buccella, Filippo" uniqKey="Buccella F" first="Filippo" last="Buccella">Filippo Buccella</name><affiliation><nlm:aff id="au21"><institution>Parent Project Onlus</institution><addr-line>Via Nicola Coviello n. 12, Roma, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kimura, En" sort="Kimura, En" uniqKey="Kimura E" first="En" last="Kimura">En Kimura</name><affiliation><nlm:aff id="au22"><institution>4-1-1 Ogawa-Higashi</institution><addr-line>Kodaira, Tokyo, Japan</addr-line></nlm:aff></affiliation></author><author><name sortKey="Koeks, Zaida" sort="Koeks, Zaida" uniqKey="Koeks Z" first="Zaïda" last="Koeks">Zaïda Koeks</name><affiliation><nlm:aff id="au23"><institution>Department of Neurology, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Den Bergen, Janneke C" sort="Van Den Bergen, Janneke C" uniqKey="Van Den Bergen J" first="Janneke C" last="Van Den Bergen">Janneke C. Van Den Bergen</name><affiliation><nlm:aff id="au23"><institution>Department of Neurology, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rodrigues, Miriam" sort="Rodrigues, Miriam" uniqKey="Rodrigues M" first="Miriam" last="Rodrigues">Miriam Rodrigues</name><affiliation><nlm:aff id="au24"><institution>Department of Neurology, Auckland DHB</institution><addr-line>Auckland, New Zealand</addr-line></nlm:aff></affiliation></author><author><name sortKey="Roxburgh, Richard" sort="Roxburgh, Richard" uniqKey="Roxburgh R" first="Richard" last="Roxburgh">Richard Roxburgh</name><affiliation><nlm:aff id="au24"><institution>Department of Neurology, Auckland DHB</institution><addr-line>Auckland, New Zealand</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name><affiliation><nlm:aff id="au25"><institution>Department of Neurology, Medical University of Warsaw</institution><addr-line>Warsaw, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kostera Pruszczyk, Anna" sort="Kostera Pruszczyk, Anna" uniqKey="Kostera Pruszczyk A" first="Anna" last="Kostera-Pruszczyk">Anna Kostera-Pruszczyk</name><affiliation><nlm:aff id="au25"><institution>Department of Neurology, Medical University of Warsaw</institution><addr-line>Warsaw, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Zimowski, Janusz" sort="Zimowski, Janusz" uniqKey="Zimowski J" first="Janusz" last="Zimowski">Janusz Zimowski</name><affiliation><nlm:aff id="au26"><institution>Department of Genetics, Institute of Psychiatry and Neurology</institution><addr-line>Warsaw, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Santos, Rosario" sort="Santos, Rosario" uniqKey="Santos R" first="Rosário" last="Santos">Rosário Santos</name><affiliation><nlm:aff id="au27"><institution>Centro de Genética Médica Jacinto Magalhães</institution><addr-line>Praça Pedro Nunes 88, Porto, Portugal</addr-line></nlm:aff></affiliation></author><author><name sortKey="Neagu, Elena" sort="Neagu, Elena" uniqKey="Neagu E" first="Elena" last="Neagu">Elena Neagu</name><affiliation><nlm:aff id="au28"><institution>National Institute of Legal Medicine, Genetics Laboratory 9</institution><addr-line>Vitan Barzesti, Bucharest, Romania</addr-line></nlm:aff></affiliation></author><author><name sortKey="Artemieva, Svetlana" sort="Artemieva, Svetlana" uniqKey="Artemieva S" first="Svetlana" last="Artemieva">Svetlana Artemieva</name><affiliation><nlm:aff id="au29"><institution>Moscow Institute of Pediatrics</institution><addr-line>Taldomskayastr, Moscow, Russia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rasic, Vedrana Milic" sort="Rasic, Vedrana Milic" uniqKey="Rasic V" first="Vedrana Milic" last="Rasic">Vedrana Milic Rasic</name><affiliation><nlm:aff id="au30"><institution>Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade</institution><addr-line>Belgrade, Serbia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vojinovic, Dina" sort="Vojinovic, Dina" uniqKey="Vojinovic D" first="Dina" last="Vojinovic">Dina Vojinovic</name><affiliation><nlm:aff id="au30"><institution>Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade</institution><addr-line>Belgrade, Serbia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Posada, Manuel" sort="Posada, Manuel" uniqKey="Posada M" first="Manuel" last="Posada">Manuel Posada</name><affiliation><nlm:aff id="au31"><institution>Institute of Rare Diseases Research, Spain RDR and CIBERER, Institute of Health Carlos III</institution><addr-line>Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bloetzer, Clemens" sort="Bloetzer, Clemens" uniqKey="Bloetzer C" first="Clemens" last="Bloetzer">Clemens Bloetzer</name><affiliation><nlm:aff id="au32"><institution>Neurorehabilitation Unit, Lausanne University Hospital</institution><addr-line>Lausanne, Switzerland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Jeannet, Pierre Yves" sort="Jeannet, Pierre Yves" uniqKey="Jeannet P" first="Pierre-Yves" last="Jeannet">Pierre-Yves Jeannet</name><affiliation><nlm:aff id="au32"><institution>Neurorehabilitation Unit, Lausanne University Hospital</institution><addr-line>Lausanne, Switzerland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Joncourt, Franziska" sort="Joncourt, Franziska" uniqKey="Joncourt F" first="Franziska" last="Joncourt">Franziska Joncourt</name><affiliation><nlm:aff id="au33"><institution>Division of Human Genetics, Children's University Hospital</institution><addr-line>Inselspital, Bern, Switzerland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Diaz Manera, Jordi" sort="Diaz Manera, Jordi" uniqKey="Diaz Manera J" first="Jordi" last="Díaz-Manera">Jordi Díaz-Manera</name><affiliation><nlm:aff id="au34"><institution>Unitat de MalaltiesNeuromusculars, Servei de Neurologia, Hospital de la Santa CreuiSant Pau de Barcelona</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gallardo, Eduard" sort="Gallardo, Eduard" uniqKey="Gallardo E" first="Eduard" last="Gallardo">Eduard Gallardo</name><affiliation><nlm:aff id="au34"><institution>Unitat de MalaltiesNeuromusculars, Servei de Neurologia, Hospital de la Santa CreuiSant Pau de Barcelona</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Karaduman, A Ay E" sort="Karaduman, A Ay E" uniqKey="Karaduman A" first="A Ay E" last="Karaduman">A Ay E Karaduman</name><affiliation><nlm:aff id="au35"><institution>Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Hacettepe University</institution><addr-line>Ankara, Turkey</addr-line></nlm:aff></affiliation></author><author><name sortKey="Topalo Lu, Haluk" sort="Topalo Lu, Haluk" uniqKey="Topalo Lu H" first="Haluk" last="Topalo Lu">Haluk Topalo Lu</name><affiliation><nlm:aff id="au36"><institution>Hacettepe Children's Hospital</institution><addr-line>Ankara, Turkey</addr-line></nlm:aff></affiliation></author><author><name sortKey="El Sherif, Rasha" sort="El Sherif, Rasha" uniqKey="El Sherif R" first="Rasha" last="El Sherif">Rasha El Sherif</name><affiliation><nlm:aff id="au37"><institution>Neurology and Neurogenic Unit, Egypt Air Hospital, Ain Shams University</institution><addr-line>Egypt</addr-line></nlm:aff></affiliation></author><author><name sortKey="Stringer, Angela" sort="Stringer, Angela" uniqKey="Stringer A" first="Angela" last="Stringer">Angela Stringer</name><affiliation><nlm:aff id="au38"><institution>Action Duchenne, Epicentre</institution><addr-line>London, UK</addr-line></nlm:aff></affiliation></author><author><name sortKey="Shatillo, Andriy V" sort="Shatillo, Andriy V" uniqKey="Shatillo A" first="Andriy V" last="Shatillo">Andriy V. Shatillo</name><affiliation><nlm:aff id="au39"><institution>Institute of Neurology, Psychiatry and Narcology of NAMS</institution><addr-line>Kharkiv, Ukraine</addr-line></nlm:aff></affiliation></author><author><name sortKey="Martin, Ann S" sort="Martin, Ann S" uniqKey="Martin A" first="Ann S" last="Martin">Ann S. Martin</name><affiliation><nlm:aff id="au40"><institution>Duchenne Connect</institution><addr-line>Hackensack, New Jersey</addr-line></nlm:aff></affiliation></author><author><name sortKey="Peay, Holly L" sort="Peay, Holly L" uniqKey="Peay H" first="Holly L" last="Peay">Holly L. Peay</name><affiliation><nlm:aff id="au40"><institution>Duchenne Connect</institution><addr-line>Hackensack, New Jersey</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bellgard, Matthew I" sort="Bellgard, Matthew I" uniqKey="Bellgard M" first="Matthew I" last="Bellgard">Matthew I. Bellgard</name><affiliation><nlm:aff id="au41"><institution>Centre for Comparative Genomics, Murdoch University</institution><addr-line>Murdoch, Western Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kirschner, Jan" sort="Kirschner, Jan" uniqKey="Kirschner J" first="Jan" last="Kirschner">Jan Kirschner</name><affiliation><nlm:aff id="au42"><institution>University Medical Center Freiburg</institution><addr-line>Freiburg, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Flanigan, Kevin M" sort="Flanigan, Kevin M" uniqKey="Flanigan K" first="Kevin M" last="Flanigan">Kevin M. Flanigan</name><affiliation><nlm:aff id="au43"><institution>Center for Gene Therapy, The Research Institute, Nationwide Children's Hospital</institution><addr-line>Columbus, Ohio</addr-line></nlm:aff></affiliation></author><author><name sortKey="Straub, Volker" sort="Straub, Volker" uniqKey="Straub V" first="Volker" last="Straub">Volker Straub</name><affiliation><nlm:aff id="au1"><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bushby, Kate" sort="Bushby, Kate" uniqKey="Bushby K" first="Kate" last="Bushby">Kate Bushby</name><affiliation><nlm:aff id="au1"><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></nlm:aff></affiliation></author><author><name sortKey="Verschuuren, Jan" sort="Verschuuren, Jan" uniqKey="Verschuuren J" first="Jan" last="Verschuuren">Jan Verschuuren</name><affiliation><nlm:aff id="au23"><institution>Department of Neurology, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Aartsma Rus, Annemieke" sort="Aartsma Rus, Annemieke" uniqKey="Aartsma Rus A" first="Annemieke" last="Aartsma-Rus">Annemieke Aartsma-Rus</name><affiliation><nlm:aff id="au1"><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="au44"><institution>Department of Human Genetics, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name><affiliation><nlm:aff id="au2"><institution>Aix Marseille Université, Inserm</institution><addr-line>GMGF UMR_S 910, Marseille, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="au45"><institution>Département de Génétique Médicale et de Biologie Cellulaire, INSERM APHM, Hôpital d'Enfants de la Timone</institution><addr-line>Marseille, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><affiliation><nlm:aff id="au1"><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25604253</idno><idno type="pmc">4405042</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405042</idno><idno type="RBID">PMC:4405042</idno><idno type="doi">10.1002/humu.22758</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">002583</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002583</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations</title><author><name sortKey="Bladen, Catherine L" sort="Bladen, Catherine L" uniqKey="Bladen C" first="Catherine L" last="Bladen">Catherine L. Bladen</name><affiliation><nlm:aff id="au1"><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></nlm:aff></affiliation></author><author><name sortKey="Salgado, David" sort="Salgado, David" uniqKey="Salgado D" first="David" last="Salgado">David Salgado</name><affiliation><nlm:aff id="au2"><institution>Aix Marseille Université, Inserm</institution><addr-line>GMGF UMR_S 910, Marseille, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Monges, Soledad" sort="Monges, Soledad" uniqKey="Monges S" first="Soledad" last="Monges">Soledad Monges</name><affiliation><nlm:aff id="au3"><institution>Hospital de Pediatría J. P. Garrahan</institution><addr-line>Pichincha, Argentina</addr-line></nlm:aff></affiliation></author><author><name sortKey="Foncuberta, Maria E" sort="Foncuberta, Maria E" uniqKey="Foncuberta M" first="Maria E" last="Foncuberta">Maria E. Foncuberta</name><affiliation><nlm:aff id="au3"><institution>Hospital de Pediatría J. P. Garrahan</institution><addr-line>Pichincha, Argentina</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kekou, Kyriaki" sort="Kekou, Kyriaki" uniqKey="Kekou K" first="Kyriaki" last="Kekou">Kyriaki Kekou</name><affiliation><nlm:aff id="au4"><institution>Department of Medical Genetics, Medical School, University of Athens</institution><addr-line>Athens, Greece</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kosma, Konstantina" sort="Kosma, Konstantina" uniqKey="Kosma K" first="Konstantina" last="Kosma">Konstantina Kosma</name><affiliation><nlm:aff id="au4"><institution>Department of Medical Genetics, Medical School, University of Athens</institution><addr-line>Athens, Greece</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="au5"><institution>Choremio Research Laboratory, St. Sophia's Children's Hospital Thinon and Levadia Goudi</institution><addr-line>Athens, Greece</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dawkins, Hugh" sort="Dawkins, Hugh" uniqKey="Dawkins H" first="Hugh" last="Dawkins">Hugh Dawkins</name><affiliation><nlm:aff id="au6"><institution>Department of Health, Office of Population Health Genomics</institution><addr-line>Perth, Western Australia, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lamont, Leanne" sort="Lamont, Leanne" uniqKey="Lamont L" first="Leanne" last="Lamont">Leanne Lamont</name><affiliation><nlm:aff id="au6"><institution>Department of Health, Office of Population Health Genomics</institution><addr-line>Perth, Western Australia, Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Roy, Anna J" sort="Roy, Anna J" uniqKey="Roy A" first="Anna J" last="Roy">Anna J. Roy</name><affiliation><nlm:aff id="au7"><institution>WIV-ISP</institution><addr-line>Juliette Wytsman 14, Brussels, Belgium</addr-line></nlm:aff></affiliation></author><author><name sortKey="Chamova, Teodora" sort="Chamova, Teodora" uniqKey="Chamova T" first="Teodora" last="Chamova">Teodora Chamova</name><affiliation><nlm:aff id="au8"><institution>Department of Neurology, Medical University-Sofia</institution><addr-line>Sofia, Bulgaria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Guergueltcheva, Velina" sort="Guergueltcheva, Velina" uniqKey="Guergueltcheva V" first="Velina" last="Guergueltcheva">Velina Guergueltcheva</name><affiliation><nlm:aff id="au8"><institution>Department of Neurology, Medical University-Sofia</institution><addr-line>Sofia, Bulgaria</addr-line></nlm:aff></affiliation></author><author><name sortKey="Chan, Sophelia" sort="Chan, Sophelia" uniqKey="Chan S" first="Sophelia" last="Chan">Sophelia Chan</name><affiliation><nlm:aff id="au9"><institution>Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong</institution><addr-line>Pok Fu Lam, Hong Kong</addr-line></nlm:aff></affiliation></author><author><name sortKey="Korngut, Lawrence" sort="Korngut, Lawrence" uniqKey="Korngut L" first="Lawrence" last="Korngut">Lawrence Korngut</name><affiliation><nlm:aff id="au10"><institution>Department of Clinical Neurosciences and Hotchkiss Brain Institute, University of Calgary</institution><addr-line>Calgary, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Campbell, Craig" sort="Campbell, Craig" uniqKey="Campbell C" first="Craig" last="Campbell">Craig Campbell</name><affiliation><nlm:aff id="au11"><institution>Department of Paediatrics, Clinical Neurological Sciences & Epidemiology, Western University</institution><addr-line>London, Ontario, Canada</addr-line></nlm:aff></affiliation></author><author><name sortKey="Dai, Yi" sort="Dai, Yi" uniqKey="Dai Y" first="Yi" last="Dai">Yi Dai</name><affiliation><nlm:aff id="au12"><institution>Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences</institution><addr-line>Beijing, P. R. China</addr-line></nlm:aff></affiliation></author><author><name sortKey="Wang, Jen" sort="Wang, Jen" uniqKey="Wang J" first="Jen" last="Wang">Jen Wang</name><affiliation><nlm:aff id="au13"><institution>Department of Neurology, China Dolls, the General Hospital of Chinese Armed Police Forces, Haidian</institution><addr-line>Beijing, P. R. China</addr-line></nlm:aff></affiliation></author><author><name sortKey="Barisi, Nina" sort="Barisi, Nina" uniqKey="Barisi N" first="Nina" last="Bariši">Nina Bariši</name><affiliation><nlm:aff id="au14"><institution>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School</institution><addr-line>Croatia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Brabec, Petr" sort="Brabec, Petr" uniqKey="Brabec P" first="Petr" last="Brabec">Petr Brabec</name><affiliation><nlm:aff id="au15"><institution>Institute for Biostatistic and Analyses, Masaryk University</institution><addr-line>Brno, Czech Republic</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lahdetie, Jaana" sort="Lahdetie, Jaana" uniqKey="Lahdetie J" first="Jaana" last="Lahdetie">Jaana Lahdetie</name><affiliation><nlm:aff id="au16"><institution>Department of Child Neurology, Turku University Central Hospital</institution><addr-line>Turku, Finland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Walter, Maggie C" sort="Walter, Maggie C" uniqKey="Walter M" first="Maggie C" last="Walter">Maggie C. Walter</name><affiliation><nlm:aff id="au17"><institution>Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich</institution><addr-line>Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Schreiber Katz, Olivia" sort="Schreiber Katz, Olivia" uniqKey="Schreiber Katz O" first="Olivia" last="Schreiber-Katz">Olivia Schreiber-Katz</name><affiliation><nlm:aff id="au17"><institution>Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich</institution><addr-line>Munich, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Karcagi, Veronika" sort="Karcagi, Veronika" uniqKey="Karcagi V" first="Veronika" last="Karcagi">Veronika Karcagi</name><affiliation><nlm:aff id="au18"><institution>Department of Molecular Genetics and Diagnostics, NIEH</institution><addr-line>Budapest, Hungary</addr-line></nlm:aff></affiliation></author><author><name sortKey="Garami, Marta" sort="Garami, Marta" uniqKey="Garami M" first="Marta" last="Garami">Marta Garami</name><affiliation><nlm:aff id="au18"><institution>Department of Molecular Genetics and Diagnostics, NIEH</institution><addr-line>Budapest, Hungary</addr-line></nlm:aff></affiliation></author><author><name sortKey="Viswanathan, Venkatarman" sort="Viswanathan, Venkatarman" uniqKey="Viswanathan V" first="Venkatarman" last="Viswanathan">Venkatarman Viswanathan</name><affiliation><nlm:aff id="au19"><institution>CHILDS Trust Medical Research Foundation and Apollo Children's Hospital</institution><addr-line>Chennai, India</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bayat, Farhad" sort="Bayat, Farhad" uniqKey="Bayat F" first="Farhad" last="Bayat">Farhad Bayat</name><affiliation><nlm:aff id="au20"><institution>Pasteur Institute of Iran</institution><addr-line>Karaj complex, Tehran, Iran</addr-line></nlm:aff></affiliation></author><author><name sortKey="Buccella, Filippo" sort="Buccella, Filippo" uniqKey="Buccella F" first="Filippo" last="Buccella">Filippo Buccella</name><affiliation><nlm:aff id="au21"><institution>Parent Project Onlus</institution><addr-line>Via Nicola Coviello n. 12, Roma, Italy</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kimura, En" sort="Kimura, En" uniqKey="Kimura E" first="En" last="Kimura">En Kimura</name><affiliation><nlm:aff id="au22"><institution>4-1-1 Ogawa-Higashi</institution><addr-line>Kodaira, Tokyo, Japan</addr-line></nlm:aff></affiliation></author><author><name sortKey="Koeks, Zaida" sort="Koeks, Zaida" uniqKey="Koeks Z" first="Zaïda" last="Koeks">Zaïda Koeks</name><affiliation><nlm:aff id="au23"><institution>Department of Neurology, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Van Den Bergen, Janneke C" sort="Van Den Bergen, Janneke C" uniqKey="Van Den Bergen J" first="Janneke C" last="Van Den Bergen">Janneke C. Van Den Bergen</name><affiliation><nlm:aff id="au23"><institution>Department of Neurology, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rodrigues, Miriam" sort="Rodrigues, Miriam" uniqKey="Rodrigues M" first="Miriam" last="Rodrigues">Miriam Rodrigues</name><affiliation><nlm:aff id="au24"><institution>Department of Neurology, Auckland DHB</institution><addr-line>Auckland, New Zealand</addr-line></nlm:aff></affiliation></author><author><name sortKey="Roxburgh, Richard" sort="Roxburgh, Richard" uniqKey="Roxburgh R" first="Richard" last="Roxburgh">Richard Roxburgh</name><affiliation><nlm:aff id="au24"><institution>Department of Neurology, Auckland DHB</institution><addr-line>Auckland, New Zealand</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name><affiliation><nlm:aff id="au25"><institution>Department of Neurology, Medical University of Warsaw</institution><addr-line>Warsaw, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kostera Pruszczyk, Anna" sort="Kostera Pruszczyk, Anna" uniqKey="Kostera Pruszczyk A" first="Anna" last="Kostera-Pruszczyk">Anna Kostera-Pruszczyk</name><affiliation><nlm:aff id="au25"><institution>Department of Neurology, Medical University of Warsaw</institution><addr-line>Warsaw, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Zimowski, Janusz" sort="Zimowski, Janusz" uniqKey="Zimowski J" first="Janusz" last="Zimowski">Janusz Zimowski</name><affiliation><nlm:aff id="au26"><institution>Department of Genetics, Institute of Psychiatry and Neurology</institution><addr-line>Warsaw, Poland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Santos, Rosario" sort="Santos, Rosario" uniqKey="Santos R" first="Rosário" last="Santos">Rosário Santos</name><affiliation><nlm:aff id="au27"><institution>Centro de Genética Médica Jacinto Magalhães</institution><addr-line>Praça Pedro Nunes 88, Porto, Portugal</addr-line></nlm:aff></affiliation></author><author><name sortKey="Neagu, Elena" sort="Neagu, Elena" uniqKey="Neagu E" first="Elena" last="Neagu">Elena Neagu</name><affiliation><nlm:aff id="au28"><institution>National Institute of Legal Medicine, Genetics Laboratory 9</institution><addr-line>Vitan Barzesti, Bucharest, Romania</addr-line></nlm:aff></affiliation></author><author><name sortKey="Artemieva, Svetlana" sort="Artemieva, Svetlana" uniqKey="Artemieva S" first="Svetlana" last="Artemieva">Svetlana Artemieva</name><affiliation><nlm:aff id="au29"><institution>Moscow Institute of Pediatrics</institution><addr-line>Taldomskayastr, Moscow, Russia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Rasic, Vedrana Milic" sort="Rasic, Vedrana Milic" uniqKey="Rasic V" first="Vedrana Milic" last="Rasic">Vedrana Milic Rasic</name><affiliation><nlm:aff id="au30"><institution>Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade</institution><addr-line>Belgrade, Serbia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Vojinovic, Dina" sort="Vojinovic, Dina" uniqKey="Vojinovic D" first="Dina" last="Vojinovic">Dina Vojinovic</name><affiliation><nlm:aff id="au30"><institution>Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade</institution><addr-line>Belgrade, Serbia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Posada, Manuel" sort="Posada, Manuel" uniqKey="Posada M" first="Manuel" last="Posada">Manuel Posada</name><affiliation><nlm:aff id="au31"><institution>Institute of Rare Diseases Research, Spain RDR and CIBERER, Institute of Health Carlos III</institution><addr-line>Madrid, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bloetzer, Clemens" sort="Bloetzer, Clemens" uniqKey="Bloetzer C" first="Clemens" last="Bloetzer">Clemens Bloetzer</name><affiliation><nlm:aff id="au32"><institution>Neurorehabilitation Unit, Lausanne University Hospital</institution><addr-line>Lausanne, Switzerland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Jeannet, Pierre Yves" sort="Jeannet, Pierre Yves" uniqKey="Jeannet P" first="Pierre-Yves" last="Jeannet">Pierre-Yves Jeannet</name><affiliation><nlm:aff id="au32"><institution>Neurorehabilitation Unit, Lausanne University Hospital</institution><addr-line>Lausanne, Switzerland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Joncourt, Franziska" sort="Joncourt, Franziska" uniqKey="Joncourt F" first="Franziska" last="Joncourt">Franziska Joncourt</name><affiliation><nlm:aff id="au33"><institution>Division of Human Genetics, Children's University Hospital</institution><addr-line>Inselspital, Bern, Switzerland</addr-line></nlm:aff></affiliation></author><author><name sortKey="Diaz Manera, Jordi" sort="Diaz Manera, Jordi" uniqKey="Diaz Manera J" first="Jordi" last="Díaz-Manera">Jordi Díaz-Manera</name><affiliation><nlm:aff id="au34"><institution>Unitat de MalaltiesNeuromusculars, Servei de Neurologia, Hospital de la Santa CreuiSant Pau de Barcelona</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Gallardo, Eduard" sort="Gallardo, Eduard" uniqKey="Gallardo E" first="Eduard" last="Gallardo">Eduard Gallardo</name><affiliation><nlm:aff id="au34"><institution>Unitat de MalaltiesNeuromusculars, Servei de Neurologia, Hospital de la Santa CreuiSant Pau de Barcelona</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff></affiliation></author><author><name sortKey="Karaduman, A Ay E" sort="Karaduman, A Ay E" uniqKey="Karaduman A" first="A Ay E" last="Karaduman">A Ay E Karaduman</name><affiliation><nlm:aff id="au35"><institution>Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Hacettepe University</institution><addr-line>Ankara, Turkey</addr-line></nlm:aff></affiliation></author><author><name sortKey="Topalo Lu, Haluk" sort="Topalo Lu, Haluk" uniqKey="Topalo Lu H" first="Haluk" last="Topalo Lu">Haluk Topalo Lu</name><affiliation><nlm:aff id="au36"><institution>Hacettepe Children's Hospital</institution><addr-line>Ankara, Turkey</addr-line></nlm:aff></affiliation></author><author><name sortKey="El Sherif, Rasha" sort="El Sherif, Rasha" uniqKey="El Sherif R" first="Rasha" last="El Sherif">Rasha El Sherif</name><affiliation><nlm:aff id="au37"><institution>Neurology and Neurogenic Unit, Egypt Air Hospital, Ain Shams University</institution><addr-line>Egypt</addr-line></nlm:aff></affiliation></author><author><name sortKey="Stringer, Angela" sort="Stringer, Angela" uniqKey="Stringer A" first="Angela" last="Stringer">Angela Stringer</name><affiliation><nlm:aff id="au38"><institution>Action Duchenne, Epicentre</institution><addr-line>London, UK</addr-line></nlm:aff></affiliation></author><author><name sortKey="Shatillo, Andriy V" sort="Shatillo, Andriy V" uniqKey="Shatillo A" first="Andriy V" last="Shatillo">Andriy V. Shatillo</name><affiliation><nlm:aff id="au39"><institution>Institute of Neurology, Psychiatry and Narcology of NAMS</institution><addr-line>Kharkiv, Ukraine</addr-line></nlm:aff></affiliation></author><author><name sortKey="Martin, Ann S" sort="Martin, Ann S" uniqKey="Martin A" first="Ann S" last="Martin">Ann S. Martin</name><affiliation><nlm:aff id="au40"><institution>Duchenne Connect</institution><addr-line>Hackensack, New Jersey</addr-line></nlm:aff></affiliation></author><author><name sortKey="Peay, Holly L" sort="Peay, Holly L" uniqKey="Peay H" first="Holly L" last="Peay">Holly L. Peay</name><affiliation><nlm:aff id="au40"><institution>Duchenne Connect</institution><addr-line>Hackensack, New Jersey</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bellgard, Matthew I" sort="Bellgard, Matthew I" uniqKey="Bellgard M" first="Matthew I" last="Bellgard">Matthew I. Bellgard</name><affiliation><nlm:aff id="au41"><institution>Centre for Comparative Genomics, Murdoch University</institution><addr-line>Murdoch, Western Australia</addr-line></nlm:aff></affiliation></author><author><name sortKey="Kirschner, Jan" sort="Kirschner, Jan" uniqKey="Kirschner J" first="Jan" last="Kirschner">Jan Kirschner</name><affiliation><nlm:aff id="au42"><institution>University Medical Center Freiburg</institution><addr-line>Freiburg, Germany</addr-line></nlm:aff></affiliation></author><author><name sortKey="Flanigan, Kevin M" sort="Flanigan, Kevin M" uniqKey="Flanigan K" first="Kevin M" last="Flanigan">Kevin M. Flanigan</name><affiliation><nlm:aff id="au43"><institution>Center for Gene Therapy, The Research Institute, Nationwide Children's Hospital</institution><addr-line>Columbus, Ohio</addr-line></nlm:aff></affiliation></author><author><name sortKey="Straub, Volker" sort="Straub, Volker" uniqKey="Straub V" first="Volker" last="Straub">Volker Straub</name><affiliation><nlm:aff id="au1"><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></nlm:aff></affiliation></author><author><name sortKey="Bushby, Kate" sort="Bushby, Kate" uniqKey="Bushby K" first="Kate" last="Bushby">Kate Bushby</name><affiliation><nlm:aff id="au1"><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></nlm:aff></affiliation></author><author><name sortKey="Verschuuren, Jan" sort="Verschuuren, Jan" uniqKey="Verschuuren J" first="Jan" last="Verschuuren">Jan Verschuuren</name><affiliation><nlm:aff id="au23"><institution>Department of Neurology, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Aartsma Rus, Annemieke" sort="Aartsma Rus, Annemieke" uniqKey="Aartsma Rus A" first="Annemieke" last="Aartsma-Rus">Annemieke Aartsma-Rus</name><affiliation><nlm:aff id="au1"><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="au44"><institution>Department of Human Genetics, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name><affiliation><nlm:aff id="au2"><institution>Aix Marseille Université, Inserm</institution><addr-line>GMGF UMR_S 910, Marseille, France</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="au45"><institution>Département de Génétique Médicale et de Biologie Cellulaire, INSERM APHM, Hôpital d'Enfants de la Timone</institution><addr-line>Marseille, France</addr-line></nlm:aff></affiliation></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><affiliation><nlm:aff id="au1"><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></nlm:aff></affiliation></author></analytic><series><title level="j">Human Mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (<ext-link ext-link-type="uri" xlink:href="http://umd.be/TREAT_DMD/">http://umd.be/TREAT_DMD/</ext-link>). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Aartsma Rus, A" uniqKey="Aartsma Rus A">A Aartsma-Rus</name></author><author><name sortKey="Fokkema, I" uniqKey="Fokkema I">I Fokkema</name></author><author><name sortKey="Verschuuren, J" uniqKey="Verschuuren J">J Verschuuren</name></author><author><name sortKey="Ginjaar, I" uniqKey="Ginjaar I">I Ginjaar</name></author><author><name sortKey="Van Deutekom, J" uniqKey="Van Deutekom J">J van Deutekom</name></author><author><name sortKey="Van Ommen, Gj" uniqKey="Van Ommen G">GJ van Ommen</name></author><author><name sortKey="Den Dunnen, Jt" uniqKey="Den Dunnen J">JT den Dunnen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Aartsma Rus, A" uniqKey="Aartsma Rus A">A Aartsma-Rus</name></author><author><name sortKey="Janson, Aa" uniqKey="Janson A">AA Janson</name></author><author><name sortKey="Kaman, We" uniqKey="Kaman W">WE Kaman</name></author><author><name sortKey="Bremmer Bout, M" uniqKey="Bremmer Bout M">M Bremmer-Bout</name></author><author><name sortKey="Den Dunnen, Jt" uniqKey="Den Dunnen J">JT den Dunnen</name></author><author><name sortKey="Baas, F" uniqKey="Baas F">F Baas</name></author><author><name sortKey="Van Ommen, Gj" uniqKey="Van Ommen G">GJ van Ommen</name></author><author><name sortKey="Van Deutekom, Jc" uniqKey="Van Deutekom J">JC van Deutekom</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Aartsma Rus, A" uniqKey="Aartsma Rus A">A Aartsma-Rus</name></author><author><name sortKey="Janson, Aa" uniqKey="Janson A">AA Janson</name></author><author><name 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Hum Mutat</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mutat</journal-id><journal-id journal-id-type="publisher-id">humu</journal-id><journal-title-group><journal-title>Human Mutation</journal-title></journal-title-group><issn pub-type="ppub">1059-7794</issn><issn pub-type="epub">1098-1004</issn><publisher><publisher-name>BlackWell Publishing Ltd</publisher-name><publisher-loc>Oxford, UK</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25604253</article-id><article-id pub-id-type="pmc">4405042</article-id><article-id pub-id-type="doi">10.1002/humu.22758</article-id><article-categories><subj-group subj-group-type="heading"><subject>Databases</subject></subj-group></article-categories><title-group><article-title>The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Bladen</surname><given-names>Catherine L</given-names></name><xref ref-type="aff" rid="au1">1</xref><xref 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contrib-type="author"><name><surname>Lochmüller</surname><given-names>Hanns</given-names></name><xref ref-type="aff" rid="au1">1</xref></contrib><aff id="au1"><label>1</label><institution>The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Central Parkway</institution><addr-line>Newcastle upon Tyne, UK</addr-line></aff><aff id="au2"><label>2</label><institution>Aix Marseille Université, Inserm</institution><addr-line>GMGF UMR_S 910, Marseille, France</addr-line></aff><aff id="au3"><label>3</label><institution>Hospital de Pediatría J. P. Garrahan</institution><addr-line>Pichincha, Argentina</addr-line></aff><aff id="au4"><label>4</label><institution>Department of Medical Genetics, Medical School, University of Athens</institution><addr-line>Athens, Greece</addr-line></aff><aff id="au5"><label>5</label><institution>Choremio Research Laboratory, St. Sophia's Children's Hospital Thinon and Levadia Goudi</institution><addr-line>Athens, Greece</addr-line></aff><aff id="au6"><label>6</label><institution>Department of Health, Office of Population Health Genomics</institution><addr-line>Perth, Western Australia, Australia</addr-line></aff><aff id="au7"><label>7</label><institution>WIV-ISP</institution><addr-line>Juliette Wytsman 14, Brussels, Belgium</addr-line></aff><aff id="au8"><label>8</label><institution>Department of Neurology, Medical University-Sofia</institution><addr-line>Sofia, Bulgaria</addr-line></aff><aff id="au9"><label>9</label><institution>Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong</institution><addr-line>Pok Fu Lam, Hong Kong</addr-line></aff><aff id="au10"><label>10</label><institution>Department of Clinical Neurosciences and Hotchkiss Brain Institute, University of Calgary</institution><addr-line>Calgary, Canada</addr-line></aff><aff id="au11"><label>11</label><institution>Department of Paediatrics, Clinical Neurological Sciences & Epidemiology, Western University</institution><addr-line>London, Ontario, Canada</addr-line></aff><aff id="au12"><label>12</label><institution>Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences</institution><addr-line>Beijing, P. R. China</addr-line></aff><aff id="au13"><label>13</label><institution>Department of Neurology, China Dolls, the General Hospital of Chinese Armed Police Forces, Haidian</institution><addr-line>Beijing, P. R. China</addr-line></aff><aff id="au14"><label>14</label><institution>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School</institution><addr-line>Croatia</addr-line></aff><aff id="au15"><label>15</label><institution>Institute for Biostatistic and Analyses, Masaryk University</institution><addr-line>Brno, Czech Republic</addr-line></aff><aff id="au16"><label>16</label><institution>Department of Child Neurology, Turku University Central Hospital</institution><addr-line>Turku, Finland</addr-line></aff><aff id="au17"><label>17</label><institution>Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich</institution><addr-line>Munich, Germany</addr-line></aff><aff id="au18"><label>18</label><institution>Department of Molecular Genetics and Diagnostics, NIEH</institution><addr-line>Budapest, Hungary</addr-line></aff><aff id="au19"><label>19</label><institution>CHILDS Trust Medical Research Foundation and Apollo Children's Hospital</institution><addr-line>Chennai, India</addr-line></aff><aff id="au20"><label>20</label><institution>Pasteur Institute of Iran</institution><addr-line>Karaj complex, Tehran, Iran</addr-line></aff><aff id="au21"><label>21</label><institution>Parent Project Onlus</institution><addr-line>Via Nicola Coviello n. 12, Roma, Italy</addr-line></aff><aff id="au22"><label>22</label><institution>4-1-1 Ogawa-Higashi</institution><addr-line>Kodaira, Tokyo, Japan</addr-line></aff><aff id="au23"><label>23</label><institution>Department of Neurology, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></aff><aff id="au24"><label>24</label><institution>Department of Neurology, Auckland DHB</institution><addr-line>Auckland, New Zealand</addr-line></aff><aff id="au25"><label>25</label><institution>Department of Neurology, Medical University of Warsaw</institution><addr-line>Warsaw, Poland</addr-line></aff><aff id="au26"><label>26</label><institution>Department of Genetics, Institute of Psychiatry and Neurology</institution><addr-line>Warsaw, Poland</addr-line></aff><aff id="au27"><label>27</label><institution>Centro de Genética Médica Jacinto Magalhães</institution><addr-line>Praça Pedro Nunes 88, Porto, Portugal</addr-line></aff><aff id="au28"><label>28</label><institution>National Institute of Legal Medicine, Genetics Laboratory 9</institution><addr-line>Vitan Barzesti, Bucharest, Romania</addr-line></aff><aff id="au29"><label>29</label><institution>Moscow Institute of Pediatrics</institution><addr-line>Taldomskayastr, Moscow, Russia</addr-line></aff><aff id="au30"><label>30</label><institution>Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade</institution><addr-line>Belgrade, Serbia</addr-line></aff><aff id="au31"><label>31</label><institution>Institute of Rare Diseases Research, Spain RDR and CIBERER, Institute of Health Carlos III</institution><addr-line>Madrid, Spain</addr-line></aff><aff id="au32"><label>32</label><institution>Neurorehabilitation Unit, Lausanne University Hospital</institution><addr-line>Lausanne, Switzerland</addr-line></aff><aff id="au33"><label>33</label><institution>Division of Human Genetics, Children's University Hospital</institution><addr-line>Inselspital, Bern, Switzerland</addr-line></aff><aff id="au34"><label>34</label><institution>Unitat de MalaltiesNeuromusculars, Servei de Neurologia, Hospital de la Santa CreuiSant Pau de Barcelona</institution><addr-line>Barcelona, Spain</addr-line></aff><aff id="au35"><label>35</label><institution>Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Hacettepe University</institution><addr-line>Ankara, Turkey</addr-line></aff><aff id="au36"><label>36</label><institution>Hacettepe Children's Hospital</institution><addr-line>Ankara, Turkey</addr-line></aff><aff id="au37"><label>37</label><institution>Neurology and Neurogenic Unit, Egypt Air Hospital, Ain Shams University</institution><addr-line>Egypt</addr-line></aff><aff id="au38"><label>38</label><institution>Action Duchenne, Epicentre</institution><addr-line>London, UK</addr-line></aff><aff id="au39"><label>39</label><institution>Institute of Neurology, Psychiatry and Narcology of NAMS</institution><addr-line>Kharkiv, Ukraine</addr-line></aff><aff id="au40"><label>40</label><institution>Duchenne Connect</institution><addr-line>Hackensack, New Jersey</addr-line></aff><aff id="au41"><label>41</label><institution>Centre for Comparative Genomics, Murdoch University</institution><addr-line>Murdoch, Western Australia</addr-line></aff><aff id="au42"><label>42</label><institution>University Medical Center Freiburg</institution><addr-line>Freiburg, Germany</addr-line></aff><aff id="au43"><label>43</label><institution>Center for Gene Therapy, The Research Institute, Nationwide Children's Hospital</institution><addr-line>Columbus, Ohio</addr-line></aff><aff id="au44"><label>44</label><institution>Department of Human Genetics, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></aff><aff id="au45"><label>45</label><institution>Département de Génétique Médicale et de Biologie Cellulaire, INSERM APHM, Hôpital d'Enfants de la Timone</institution><addr-line>Marseille, France</addr-line></aff></contrib-group><author-notes><corresp id="cor1">*
Correspondence to: Catherine L. Bladen, The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Times Square, Newcastle upon Tyne, Newcastle NE13BZ, United Kingdom. E-mail: <email>catherine.bladen@ncl.ac.uk</email></corresp><fn id="fn1"><label>†</label><p>This author contributed equally to this work.</p></fn><fn><p>‡Lawrence Korngut present address is Clinical Neurosciences, South Health Campus, 4448 Front Street SE, Calgary, Alberta, Canada.</p></fn><fn><p>Contract grant sponsor(s): TREAT-NMD (FP6LSHM-CT-2006-036825, 20123307 UNEW_FY2013, and AFM 16104); European Union Seventh Framework Programme (FP7/2007-2013) ( 305444 [RD-Connect] and 305121 [Neuromics]).</p></fn><fn><p>Communicated by William S. Oetting</p></fn></author-notes><pub-date pub-type="ppub"><month>4</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>17</day><month>3</month><year>2015</year></pub-date><volume>36</volume><issue>4</issue><fpage>395</fpage><lpage>402</lpage><history><date date-type="received"><day>18</day><month>11</month><year>2014</year></date><date date-type="accepted"><day>13</day><month>1</month><year>2015</year></date></history><permissions><copyright-statement>© 2015 The Authors. **<italic>Human Mutation</italic> published by Wiley Periodicals, Inc.</copyright-statement><copyright-year>2015</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-nd/3.0/"><license-p>This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.</license-p></license></permissions><abstract><p>Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (<ext-link ext-link-type="uri" xlink:href="http://umd.be/TREAT_DMD/">http://umd.be/TREAT_DMD/</ext-link>). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).</p></abstract><kwd-group><kwd>DMD</kwd><kwd>Duchenne muscular dystrophy</kwd><kwd>TREAT-NMD</kwd><kwd>rare disease registries</kwd></kwd-group></article-meta></front><body><sec><title>Introduction</title><p>Duchenne muscular dystrophy (DMD) is a severe, X-linked, progressive neuromuscular disease caused by mutations in the <italic>DMD</italic> gene (DMD; MIM #310200) [Hoffman et al., <xref rid="b16" ref-type="bibr">1988</xref>]. Mutations in this gene give rise to two forms of muscular dystrophy depending on whether the translational reading frame is lost or maintained: severe DMD, due to out of frame mutations leading to loss of protein function, or a milder form of muscular dystrophy known as Becker muscular dystrophy (BMD; MIM #300376), caused by a reduction in the amount and/or size of dystrophin protein due to frame maintaining mutations [Koenig et al., <xref rid="b19" ref-type="bibr">1989</xref>]. The <italic>DMD</italic> gene is the largest known gene in humans, spanning 2.3 Mb of genomic DNA. The coding sequence spans 11 Kb and is made up of 79 exons [Ahn and Kunkel, <xref rid="b5" ref-type="bibr">1993</xref>]. Many different types of mutation have been described for DMD including large deletions and duplications, point mutations, and small rearrangements.</p><p>DMD has a prevalence of 21.2/100,000 school aged boys [Mah et al., <xref rid="b22" ref-type="bibr">2014</xref>]. Current care recommendations (specifically, the use of corticosteroids, cardiac medications, and assisted ventilation) improve outcomes and quality of life but do not modify the underlying progression of the disease [Sejerson and Bushby, <xref rid="b25" ref-type="bibr">2009</xref>; Hoffman et al., <xref rid="b17" ref-type="bibr">2012</xref>]. Potential treatment strategies center primarily on targeted mitigation of the causative genetic mutation. One example of a genetic-based potential therapy is nonsense stop codon read-through therapy [Howard et al., <xref rid="b18" ref-type="bibr">2000</xref>; Wagner et al., <xref rid="b31" ref-type="bibr">2001</xref>; Hirawat et al., <xref rid="b15" ref-type="bibr">2007</xref>; Welch et al., <xref rid="b32" ref-type="bibr">2007</xref>]. These treatments include aminoglycosides and ataluren (previously PTC124), and work by selectively inducing ribosomal read-through of premature stop codons but not normal stop codons. Specific nonsense mutations exist in DMD patients leading to premature stop codons (TGA, TAG, and TAA) and would potentially benefit from this therapy. Translarna recently obtained conditional marketing authorization from the European Medicine Agency for use in ambulant Duchenne patients over 5 years of age, and as such is the first drug to be approved for DMD.</p><p>A further example is the exon skipping approach. Exon skipping aims to moderate disease progression by taking advantage of the knowledge that internally deleted dystrophins (seen in BMD) can be partially functional [Béroud et al., <xref rid="b9" ref-type="bibr">2007</xref>; Aartsma-Rus et al., <xref rid="b1" ref-type="bibr">2009</xref>; van Ommen and Aartsma-Rus, <xref rid="b29" ref-type="bibr">2013</xref>]. Significant research has been undertaken in the field of exon skipping to restore the open reading frame of dystrophin transcripts resulting in the production of partly functional dystrophin protein [van Ommen et al., <xref rid="b30" ref-type="bibr">2008</xref>; Aartsma-Rus et al., <xref rid="b1" ref-type="bibr">2009</xref>]. Exon skipping is achieved by the use of antisense oligonucleotides (AONs) that specifically bind to and hide exons from the splicing machinery, leading to an in-frame mRNA without this exon and giving rise to internally deleted dystrophin proteins as seen in BMD patients [Takeshima et al., <xref rid="b27" ref-type="bibr">2001</xref>; Aartsma-Rus et al., <xref rid="b2" ref-type="bibr">2003</xref>, <xref rid="b3" ref-type="bibr">2004</xref>; Surono et al., <xref rid="b26" ref-type="bibr">2004</xref>; McClorey et al., <xref rid="b23" ref-type="bibr">2006</xref>; Arechavala-Gomeza et al., <xref rid="b7" ref-type="bibr">2007</xref>; Gurvich et al., <xref rid="b14" ref-type="bibr">2008</xref>]. Since DMD has a relatively high rate of new mutations (one in three mutations is new), most patients have unique mutations [Aartsma-Rus et al., <xref rid="b4" ref-type="bibr">2006</xref>; Tuffery-Giraud et al., <xref rid="b28" ref-type="bibr">2009</xref>]. However, approximately 60%–65% of all DMD patients carry a deletion of one or more exons, with a tendency to cluster between exons 45 and 55 [Aartsma-Rus et al., <xref rid="b4" ref-type="bibr">2006</xref>; Tuffery-Giraud et al., <xref rid="b28" ref-type="bibr">2009</xref>]. Furthermore, while the location of the breakpoints in introns will differ for patients with a deletion of exon 48–50, these deletions will give rise to identical transcripts. Therefore, the skipping of certain exons would be applied to relatively large numbers of patients.</p><p>Understanding the type and frequency of patient-specific mutations that give rise to DMD-associated phenotypes is an invaluable tool for genetic diagnosis, basic scientific research, and improved clinical care, potentially leading to new treatments for the disease. Currently, the TREAT-NMD DMD Global database contains over 7,000 (7,149 as of November 2013) mutations (<ext-link ext-link-type="uri" xlink:href="http://umd.be/TREAT_DMD/">http://umd.be/TREAT_DMD/</ext-link>). Locus-specific databases (LSDBs) allow for the collection, organization, storage, and analysis of genetic variants of disease. LSDBs collect all published and unpublished mutations for a specific gene along with complete clinical and phenotypic information. Additional confidence exists in these data sets due in part to the role of experts or “curators.” Curators validate the data held within the database and significantly reduce error rates [Béroud et al., <xref rid="b8" ref-type="bibr">2005</xref>; Cotton et al., <xref rid="b12" ref-type="bibr">2008</xref>]. In the case of LSDBs for DMD, a number of databases exist including, the Leiden muscular dystrophy pages (<ext-link ext-link-type="uri" xlink:href="http://www.dmd.nl/">http://www.dmd.nl/</ext-link>) in the Netherlands [Aartsma-Rus et al., <xref rid="b4" ref-type="bibr">2006</xref>], and the UMD-DMD (<ext-link ext-link-type="uri" xlink:href="http://www.umd.be/DMD/">http://www.umd.be/DMD/</ext-link>) in France [Cotton et al., <xref rid="b12" ref-type="bibr">2008</xref>]. We here report a new global mutation database for DMD, and outline how this can be used for genetic analysis and development of genetic therapies.</p></sec><sec sec-type="methods"><title>Methods</title><p>A new global database for DMD (TREAT-NMD DMD Global database) based on the French UMD-DMD system has been developed with TREAT-NMD collaboration. TREAT-NMD was initially established as an EU-funded “network of excellence” with the remit of “reshaping the research environment” in the neuromuscular field ([<ext-link ext-link-type="uri" xlink:href="http://www.treat-nmd.eu/">http://www.treat-nmd.eu/</ext-link>], 2013; Bushby et al., <xref rid="b11" ref-type="bibr">2009</xref>). Standardized mutation (DMD mutations) specific data based on TREAT-NMD mandatory and highly encouraged items from the national TREAT-NMD DMD registries [Bladen et al., <xref rid="b10" ref-type="bibr">2013</xref>] were transferred to the global DMD database via a secure File Transfer Protocol transfer in November 2013 in order to provide a single cohort of genetic and clinical variants (<xref ref-type="fig" rid="fig01">Fig. 1</xref>). Analysis of DMD genetic mutations was then carried out for the 7,149 patient data sets held within the TREAT-NMD DMD Global database. HGVS (Human Genome Variation Society) nomenclature was used throughout (<ext-link ext-link-type="uri" xlink:href="http://www.hgvs.org/mutnomen/">http://www.hgvs.org/mutnomen/</ext-link>).</p><fig id="fig01" position="float"><label>Figure 1</label><caption><p>Upload of data from national TREAT-NMD DMD registries to Global database. Standardized aggregate data from the national TREAT-NMD DMD registries was transferred to the global DMD database via a secure File Transfer Protocol transfer in order to provide a single cohort of genetic and clinical variants.</p></caption><graphic xlink:href="humu0036-0395-f1"></graphic></fig></sec><sec sec-type="results"><title>Results</title><p>The TREAT-NMD DMD Global database currently contains 7,149 DMD mutations. There were 5,684 large mutations (80%), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger) (Table<xref ref-type="table" rid="tbl1">1</xref>). There were 1,445 small mutations (20% of all mutations), of which 358 (25%) were deletions (smaller than 1 exon) and 132 (9%) were duplications (smaller than one exon); 199 (14%) splice site mutations were recorded. Point mutations totalled 756 (10% of all mutations, 52% of small mutations) with 726 nonsense mutations (10% of all mutations, 50% of small mutations) and three missense mutations (<1% of all mutations, 2% of small mutations). Finally, 22 (less than 1% of all mutations, 0.3% of small mutations) mid-intronic mutations were observed (Table<xref ref-type="table" rid="tbl1">1</xref>).</p><table-wrap id="tbl1" position="float"><label>Table 1</label><caption><p>Type and Frequency of Mutations Held within the TREAT-NMD DMD Global Database</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left" rowspan="1" colspan="1">Total</th><th align="left" rowspan="1" colspan="1">7,149</th><th align="left" rowspan="1" colspan="1">Percentage of total mutations</th></tr></thead><tbody><tr><td align="left" rowspan="1" colspan="1">Large mutations</td><td align="left" rowspan="1" colspan="1">5,682</td><td align="left" rowspan="1" colspan="1">79</td></tr><tr><td align="left" rowspan="1" colspan="1">Large deletions (≥ 1 exon)</td><td align="left" rowspan="1" colspan="1">4,894</td><td align="left" rowspan="1" colspan="1">68</td></tr><tr><td align="left" rowspan="1" colspan="1">Large duplications (≥ 1 exon)</td><td align="left" rowspan="1" colspan="1">784</td><td align="left" rowspan="1" colspan="1">11</td></tr><tr><td align="left" rowspan="1" colspan="1">Small mutations</td><td align="left" rowspan="1" colspan="1">1,445</td><td align="left" rowspan="1" colspan="1">20</td></tr><tr><td align="left" rowspan="1" colspan="1">Small deletions (<1 exon)</td><td align="left" rowspan="1" colspan="1">358</td><td align="left" rowspan="1" colspan="1">5</td></tr><tr><td align="left" rowspan="1" colspan="1">Small insertions (<1 exon)</td><td align="left" rowspan="1" colspan="1">132</td><td align="left" rowspan="1" colspan="1">2</td></tr><tr><td align="left" rowspan="1" colspan="1">Splice sites (<10 bp from exon)</td><td align="left" rowspan="1" colspan="1">199</td><td align="left" rowspan="1" colspan="1">3</td></tr><tr><td align="left" rowspan="1" colspan="1">Point mutations</td><td align="left" rowspan="1" colspan="1">756</td><td align="left" rowspan="1" colspan="1">11</td></tr><tr><td align="left" rowspan="1" colspan="1">Nonsense</td><td align="left" rowspan="1" colspan="1">726</td><td align="left" rowspan="1" colspan="1">10</td></tr><tr><td align="left" rowspan="1" colspan="1">Missense</td><td align="left" rowspan="1" colspan="1">30</td><td align="left" rowspan="1" colspan="1">0.4</td></tr><tr><td align="left" rowspan="1" colspan="1">Mid-intronic mutations</td><td align="left" rowspan="1" colspan="1">22</td><td align="left" rowspan="1" colspan="1">0.3</td></tr></tbody></table></table-wrap><sec><title>Large Mutations</title><sec><title>Large deletions</title><p>Four thousand eight hundred ninety four large deletions were reported and accounted for 68% of total mutations. <xref ref-type="fig" rid="fig02">Figure 2</xref>a highlights the ten most commonly reported (observed more than 100 times) large deletions within the database. The most common large deletion was a deletion of exon 45, which was recorded 316 times in the database (4% of deletions). Distribution of large deletions was nonrandom with the majority of large deletions (80%) covering either the distal region mutation hot spot of the dystrophin gene (exons 45–55) or the proximal region (exons 2–20) (<xref ref-type="fig" rid="fig03">Fig. 3</xref>).</p><fig id="fig02" position="float"><label>Figure 2</label><caption><p>Most commonly reported large mutations. Most commonly reported large deletions (recorded 100 times or more) (A) and large duplications (recorded ten times or more) (B) in the TREAT-NMD DMD Global database.</p></caption><graphic xlink:href="humu0036-0395-f2"></graphic></fig><fig id="fig03" position="float"><label>Figure 3</label><caption><p>Distribution of the most common large deletions and duplications on the <italic>DMD</italic> gene.</p></caption><graphic xlink:href="humu0036-0395-f3"></graphic></fig></sec><sec><title>Large duplications</title><p>Seven hundred eighty four large duplications were reported and accounted for 11% of total mutations. <xref ref-type="fig" rid="fig02">Figure 2</xref>b shows the eight most commonly reported large duplications (observed more than ten times). The most common large duplication was duplication of exon 2 (11% of duplications). Distribution of large duplications was nonrandom with most large duplications involving distal or proximal mutation hot spots (65%) (<xref ref-type="fig" rid="fig03">Fig. 3</xref>).</p></sec><sec><title>Single exon deletions and duplications</title><p>The five most frequent single exon deletions recorded in the database (all reported more than 100 times) were deletion of exon 45 (4%), 51 (3%), 44 (3%), 52 (3%), and 50 (2%). Single exon duplications occurred less frequently than single exon deletions. Duplication of exon 2 was the most frequent and was reported 50 times, while the second most frequent single exon duplication was duplication of exon 17 and was reported 11 times in the database.</p></sec></sec><sec><title>Small Mutations</title><p>The database contained 1,445 small lesions and included deletions (smaller than 1 exon; 355, 25%), duplications (smaller than one exon; 132, 9%), 199 (14%) splice site mutations and 756 (52%) point mutations, 726 (50%) nonsense mutations, 30 (2%) missense mutations, and 22 (0.3%) mid-intronic mutations (Table<xref ref-type="table" rid="tbl1">1</xref>). Small deletions and mutations ranged in size from two nucleotides (occurring 85 times) to 111 nucleotides (occurring twice).</p><sec><title>Nonsense mutations</title><p>Nonsense mutations represented 50% of the small mutations in the database and 10% of total mutations. Transition mutational events (70%) were more common than transversions (30%), with the C-to-T substitution being the most frequent (90%).</p></sec><sec><title>Potential DMD therapies</title><p>Nonsense stop codon read-through therapy has obtained conditional marketing authorization [Howard et al., <xref rid="b18" ref-type="bibr">2000</xref>; Wagner et al., <xref rid="b31" ref-type="bibr">2001</xref>; Hirawat et al., <xref rid="b15" ref-type="bibr">2007</xref>; Welch et al., <xref rid="b32" ref-type="bibr">2007</xref>]. This treatment selectively induces ribosomal read-through of premature stop codons but not normal stop codons. Mutations were identified within the database that would potentially benefit from this therapy. These included 317 mutations (4% of overall mutations) with a premature TGA stop codon, 215 (3%) with a TAG stop codon, and 194 (3%) with a TAA stop codon.</p><p>Exon skipping technology takes advantage of the fact that internally deleted dystrophins, often seen in BMD, can be partially functional. Mutations were identified within the database that would potentially benefit from exon skipping therapy. The top ten exon skips that would be applicable to the largest group of patients were skipping of exon 51 (14% of total mutations/21% of deletions), 53 (10%/15%), 45 (9%/13%), 44 (7%/11%),43 (7%/11%), 46(5%/7%), 50(4%/6%), 52(4%/5%), 55(3%/4%), and 8(2%/3%), respectively, as shown in Table<xref ref-type="table" rid="tbl2">2</xref>. It is important to point out that the applicability of exon skipping of certain exons reduces once AONs targeting other exons have been developed. For example, the reading frame of exon 52 deletions can be restored by skipping exon 51 or by skipping exon 53. However, once an AON for exon 51 has been developed and approved for clinical use, the additional applicability of exon 53 skipping is then lower than the a priori applicability, since it now only applies to 8% of mutations rather than 10%, because the exon 52 deletion has already been rescued by exon 51 skipping. The top 10 of exon skips and their added applicability (i.e., taking this adjustment into account) is shown in Table<xref ref-type="table" rid="tbl2">2</xref>.</p><table-wrap id="tbl2" position="float"><label>Table 2</label><caption><p>Overview of DMD Exons</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left" rowspan="1" colspan="1">Real<xref ref-type="table-fn" rid="tf2-1">a</xref></th><th align="left" rowspan="1" colspan="1">Mutation (%)</th><th align="left" rowspan="1" colspan="1">Deletion (%)</th><th align="left" rowspan="1" colspan="1">Adjusted<xref ref-type="table-fn" rid="tf2-2">b</xref></th><th align="left" rowspan="1" colspan="1">Mutation (%)</th><th align="left" rowspan="1" colspan="1">Deletion (%)</th></tr></thead><tbody><tr><td align="left" rowspan="1" colspan="1">Exon 51</td><td align="left" rowspan="1" colspan="1">14.0</td><td align="left" rowspan="1" colspan="1">20.50</td><td align="left" rowspan="1" colspan="1">Exon 51</td><td align="left" rowspan="1" colspan="1">14.0</td><td align="left" rowspan="1" colspan="1">20.5</td></tr><tr><td align="left" rowspan="1" colspan="1">Exon 53</td><td align="left" rowspan="1" colspan="1">10.1</td><td align="left" rowspan="1" colspan="1">14.7</td><td align="left" rowspan="1" colspan="1">Exon 45</td><td align="left" rowspan="1" colspan="1">9.0</td><td align="left" rowspan="1" colspan="1">13.1</td></tr><tr><td align="left" rowspan="1" colspan="1">Exon 45</td><td align="left" rowspan="1" colspan="1">9.0</td><td align="left" rowspan="1" colspan="1">13.1</td><td align="left" rowspan="1" colspan="1">Exon 53</td><td align="left" rowspan="1" colspan="1">8.1</td><td align="left" rowspan="1" colspan="1">11.8</td></tr><tr><td align="left" rowspan="1" colspan="1">Exon 44</td><td align="left" rowspan="1" colspan="1">7.1</td><td align="left" rowspan="1" colspan="1">11.1</td><td align="left" rowspan="1" colspan="1">Exon 44</td><td align="left" rowspan="1" colspan="1">7.6</td><td align="left" rowspan="1" colspan="1">11.1</td></tr><tr><td align="left" rowspan="1" colspan="1">Exon 43</td><td align="left" rowspan="1" colspan="1">7.5</td><td align="left" rowspan="1" colspan="1">11.0</td><td align="left" rowspan="1" colspan="1">Exon 50</td><td align="left" rowspan="1" colspan="1">3.8</td><td align="left" rowspan="1" colspan="1">5.6</td></tr><tr><td align="left" rowspan="1" colspan="1">Exon 46</td><td align="left" rowspan="1" colspan="1">4.6</td><td align="left" rowspan="1" colspan="1">6.7</td><td align="left" rowspan="1" colspan="1">Exon 43</td><td align="left" rowspan="1" colspan="1">3.1</td><td align="left" rowspan="1" colspan="1">4.5</td></tr><tr><td align="left" rowspan="1" colspan="1">Exon 50</td><td align="left" rowspan="1" colspan="1">3.8</td><td align="left" rowspan="1" colspan="1">5.6</td><td align="left" rowspan="1" colspan="1">Exon 8</td><td align="left" rowspan="1" colspan="1">2.00</td><td align="left" rowspan="1" colspan="1">2.9</td></tr><tr><td align="left" rowspan="1" colspan="1">Exon 52</td><td align="left" rowspan="1" colspan="1">3.6</td><td align="left" rowspan="1" colspan="1">5.3</td><td align="left" rowspan="1" colspan="1">Exon 55</td><td align="left" rowspan="1" colspan="1">1.7</td><td align="left" rowspan="1" colspan="1">2.5</td></tr><tr><td align="left" rowspan="1" colspan="1">Exon 55</td><td align="left" rowspan="1" colspan="1">2.7</td><td align="left" rowspan="1" colspan="1">3.9</td><td align="left" rowspan="1" colspan="1">Exon 52</td><td align="left" rowspan="1" colspan="1">0.9</td><td align="left" rowspan="1" colspan="1">1.3</td></tr><tr><td align="left" rowspan="1" colspan="1">Exon 8</td><td align="left" rowspan="1" colspan="1">2.0</td><td align="left" rowspan="1" colspan="1">2.9</td><td align="left" rowspan="1" colspan="1">Exon 11</td><td align="left" rowspan="1" colspan="1">0.9</td><td align="left" rowspan="1" colspan="1">1.3</td></tr></tbody></table><table-wrap-foot><fn id="tf2-1"><label>a</label><p>Overview of exons for which single exon skipping would be applicable to the largest groups of patients.</p></fn><fn id="tf2-2"><label>b</label><p>Adjusted overview of applicability of single exon skipping.</p></fn></table-wrap-foot></table-wrap></sec><sec><title>CpG sites</title><p>Substitutions involving a CpG dinucleotide accounted for 31% (233/756) of point mutations within the database. The CpG dinucleotide has been shown to undergo oxidative deamination of 5-methyl cytosine resulting in a mutational “hot spot” and mutation rates an order of magnitude higher than normally expected [Akalin et al., <xref rid="b6" ref-type="bibr">1994</xref>; Krawczak et al., <xref rid="b20" ref-type="bibr">1998</xref>; Flanigan et al., <xref rid="b13" ref-type="bibr">2009</xref>].</p></sec><sec><title>Geography and DMD mutations</title><p>Regardless of geographical location (determined by continent), large deletions were by far the most commonly observed (64% in Oceania to 88% in Africa) mutation followed by large duplications (5% in Africa to 12% in Europe). The number of small mutations was generally more variable (7% in Africa to 22% in Oceania) but this variability is likely explained by the fact that not all countries routinely assay for point mutations and other small lesions and indeed numbers of patients were significantly smaller, for example, in Africa compared to Europe (<xref ref-type="fig" rid="fig04">Fig. 4</xref>).</p><fig id="fig04" position="float"><label>Figure 4</label><caption><p>Geography and DMD mutations. Distribution of DMD mutation types stratified by continent.</p></caption><graphic xlink:href="humu0036-0395-f4"></graphic></fig></sec></sec></sec><sec sec-type="discussion"><title>Discussion</title><sec><title>Databases</title><p>Resources existed for DMD prior to the creation of the TREAT-NMD DMD Global database, the Leiden muscular dystrophy pages (<ext-link ext-link-type="uri" xlink:href="http://www.dmd.nl/">http://www.dmd.nl/</ext-link>) in the Netherlands [Aartsma-Rus et al., <xref rid="b4" ref-type="bibr">2006</xref>], and the UMD-DMD (<ext-link ext-link-type="uri" xlink:href="http://www.umd.be/DMD/">http://www.umd.be/DMD/</ext-link>) in France [Cotton et al., <xref rid="b12" ref-type="bibr">2008</xref>]. For both the previously existing databases, bias of recorded mutations has been an inherent problem due in part to the method used to determine the mutation. Historically, detection of deletions and duplications was easier than detection of point mutations and other small rearrangements leading to an overrepresentation of such mutations in the literature and indeed a possible underrepresentation of point mutations and other small rearrangements. However, this bias is becoming less of an issue due to current diagnostic techniques that are widely available [Prior and Bridgeman, <xref rid="b24" ref-type="bibr">2005</xref>; Flanigan et al., <xref rid="b13" ref-type="bibr">2009</xref>]. Also, while initially, the most commonly occurring mutations were recorded; now there is potentially a bias toward only novel mutations being recorded in the Leiden database. In addition to this, the UMD-DMD database is specific to France and could potentially include a bias for mutations observed with higher or lower frequencies only in France. The new TREAT-NMD DMD Global database houses what we believe to be the single largest cohort of verified DMD mutations in the world and was established to collect and compare and molecular mutations found within this patient group. Mutational analysis of the database illustrates the allelic heterogeneity of the <italic>DMD</italic> gene. Indeed, one-third of all DMD mutations occur de novo [Laing, <xref rid="b21" ref-type="bibr">1993</xref>].</p></sec><sec><title>Analysis and Comparisons</title><p>Analysis of the TREAT-NMD DMD Global database revealed that large deletions were the most prevalent genetic mutation recorded and accounted for 68% of the total mutations analyzed, deletion of exon 45 being the single most common large deletion (reported 316 times). These results are similar to both the French UMD database [Tuffery-Giraud et al., <xref rid="b28" ref-type="bibr">2009</xref>] with 62% of the mutations being large deletions and the Leiden database [Aartsma-Rus et al., <xref rid="b4" ref-type="bibr">2006</xref>], where 72% of the mutations are large deletions. In the Leiden database and the TREAT-NMD DMD Global databases, deletion of exon 45 was the most common deletion, making up 4% of the mutations in the TREAT-NMD DMD Global database and 2% of the Leiden database. Large duplications accounted for 11% of mutations in the TREAT-NMD DMD Global database compared to 13% in the French UMD database and 8% in the Leiden database. The most commonly occurring large duplication was duplication of exon 2 in all three databases. Small rearrangements accounted for 20% of the TREAT-NMD DMD Global database that was similar to the French UMD database (26%) and the Leiden database (20%). Point mutations and nonsense mutation were the most prevalent small rearrangements with nonsense mutations accounting for 50% of the small rearrangements in the TREAT-NMD DMD Global database, compared to 40% in the French UMD database and 50% in the Leiden database. Large deletions and duplications follow a nonrandom distribution with 78% of them including either the proximal or distal mutation hot spots [Koenig et al., <xref rid="b19" ref-type="bibr">1989</xref>; Prior and Bridgeman, <xref rid="b24" ref-type="bibr">2005</xref>; Aartsma-Rus et al., <xref rid="b4" ref-type="bibr">2006</xref>].</p></sec><sec><title>Reading Frame Rule</title><p>The majority of the reported (DMD) mutations in the TREAT-NMD DMD Global database resulted in frame-shift mutations</p><p>(93%). Mutations not following the reading-frame rule in the TREAT-NMD DMD Global database accounted for 7% of total mutations compared with 4% in the UMD-DMD database and 9% in the Leiden database.</p></sec><sec><title>Potential DMD Therapies</title><p>Several potential novel DMD therapies exist and are focused on the mitigation of the underlying genetic defect. The two most promising examples are nonsense read-through and exon skipping. Mutations were identified within the database that would potentially benefit from this stop codon read-through therapy (10% of mutations). Exon skipping mutations were identified within the database that would potentially benefit from exon skipping therapy (55% of total mutations and 80% of deletions).</p><p>Understanding the type and frequency of patient-specific mutations that give rise to DMD-associated phenotypes will potentially lead to personalized (targeted/precision) therapies. DMD essentially serves as a paradigm for this type of treatment and ultimately could lead the way to similar approaches in other rare diseases and indeed in more common disorders.</p></sec></sec></body><back><ack><p>The authors would like to acknowledge the families of those living with DMD who have been instrumental in the formation of the DMD national registries. We also acknowledge former and current members of the TREAT-NMD office at the Institute of Genetic Medicine in Newcastle including Stephen Lynn, Emma Heslop, and Rachel Thompson. We also extend our thanks to the members of the TREAT-NMD executive committee: Hanns Lochmuller, Annemieke Aartsma-Rus, Anna Ambrosini, Filippo Buccella, Kevin Flanigan, Eric Hoffman, Janbernd Kirschner, Eugenio Mercuri, Ichizo Nishino, Kathy North, Jes Rahbek, and Thomas Sejersen. We also acknowledge the members of the current TGDOC: Jan Verschuuren (Chair), Hugh Dawkins (Chair elect), Anna Ambrosini, Svetlana Artemieva, Alexander N. Baranov, Farhad Bayat, Christophe Béroud, Ria Broekgaarden, Filippo Buccella, Craig Campbell, Nick Catlin, Monica Ensini, Pat Furlong, Kevin Flanigan, Ole Gredal, Lauren Hache, Serapİnal, Jacqueline Jackson, Pierre-Yves Jeannet, Anna Kaminska, A. Ayse Karaduman, Veronika Karcagi, En Kimura, Janbernd Kirschner, Jaana Lähdetie, Hanns Lochmüller, Vitaliy Matyushenko, Vedrana Milic-Rasic, Violeta Mihaylova, Marie-Christine Ouillade, Ian Murphy, Miriam Rodrigues, Rosario dos Santos, Pascale Saugier-Veber, Inge Schwersenz, Thomas Sejersen, Rasha El Sherif, Eduardo Tizzano, Isabela Tudorache, Sylvie Tuffery-Giraud, Jen Wang, Simon Woods, W. Ludo van der Pol, Peter Van den Bergh, and Petr Vondráček.</p><p><italic>Disclosure statement</italic> Professor Hanns Lochmuller was elected chair of the TREAT-NMD Alliance in April 2012 and is the previous chair of the oversight committee. 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