Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Identifieur interne : 002A32 ( Pmc/Checkpoint ); précédent : 002A31; suivant : 002A33Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Auteurs : D A Koolen [Pays-Bas] ; A J Sharp [États-Unis, Suisse] ; J A Hurst [Royaume-Uni] ; H V Firth [Royaume-Uni] ; S J L. Knight [Royaume-Uni] ; A. Goldenberg [France] ; P. Saugier-Veber [France] ; R. Pfundt [Pays-Bas] ; L E L M. Vissers [Pays-Bas] ; A. Destrée [Belgique] ; B. Grisart [Belgique] ; L. Rooms [Belgique] ; N Van Der Aa [Belgique] ; M. Field [Australie] ; A. Hackett [Australie] ; K. Bell [Canada] ; M J M. Nowaczyk [Canada] ; G M S. Mancini [Pays-Bas] ; P J Poddighe [Pays-Bas] ; C E Schwartz [États-Unis] ; E. Rossi [Italie] ; M. De Gregori [Italie] ; L L Antonacci-Fulton [États-Unis] ; M D Mclellan [États-Unis] ; J M Garrett [États-Unis] ; M A Wiechert [États-Unis] ; T L Miner [États-Unis] ; S. Crosby [États-Unis] ; R. Ciccone [Italie] ; L. Willatt [Royaume-Uni] ; A. Rauch [Allemagne] ; M. Zenker [Allemagne] ; S. Aradhya [États-Unis] ; M A Manning [États-Unis] ; T M Strom [Allemagne] ; J. Wagenstaller [Allemagne] ; A C Krepischi-Santos [Brésil] ; A M Vianna-Morgante [Brésil] ; C. Rosenberg [Brésil] ; S M Price [Royaume-Uni] ; H. Stewart [Royaume-Uni] ; C. Shaw-Smith [Royaume-Uni] ; H G Brunner [Pays-Bas] ; A O M. Wilkie [Royaume-Uni] ; J A Veltman [Pays-Bas] ; O. Zuffardi [Italie] ; E E Eichler [États-Unis] ; B B A. De Vries [Pays-Bas]Source :
- Journal of medical genetics [ 0022-2593 ] ; 2008.
Abstract
The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation.
We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome.
We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729–41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (
Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.
Url:
DOI: 10.1136/jmg.2008.058701
PubMed: 18628315
PubMed Central: 3071570
Affiliations:
- Allemagne, Australie, Belgique, Brésil, Canada, France, Italie, Pays-Bas, Royaume-Uni, Suisse, États-Unis
- Angleterre, Bavière, Californie, District de Moyenne-Franconie, Gueldre, Haute-Normandie, Hollande-Méridionale, Missouri (État), Ontario, Oxfordshire, Province d'Anvers, Région Normandie, Région flamande, État de São Paulo
- Anvers, Erlangen, Hamilton (Ontario), Nimègue, Oxford, Rotterdam, Rouen, Saint-Louis (Missouri), São Paulo
- Université McMaster, Université d'Anvers, Université d'Oxford, Université de São Paulo, École de médecine (Université Washington de Saint-Louis)
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PMC:3071570Le document en format XML
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<country xml:lang="fr">Pays-Bas</country>
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<author><name sortKey="Schwartz, C E" sort="Schwartz, C E" uniqKey="Schwartz C" first="C E" last="Schwartz">C E Schwartz</name>
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<author><name sortKey="Rossi, E" sort="Rossi, E" uniqKey="Rossi E" first="E" last="Rossi">E. Rossi</name>
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<author><name sortKey="De Gregori, M" sort="De Gregori, M" uniqKey="De Gregori M" first="M" last="De Gregori">M. De Gregori</name>
<affiliation wicri:level="1"><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff>
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<author><name sortKey="Antonacci Fulton, L L" sort="Antonacci Fulton, L L" uniqKey="Antonacci Fulton L" first="L L" last="Antonacci-Fulton">L L Antonacci-Fulton</name>
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<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
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<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
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<author><name sortKey="Mclellan, M D" sort="Mclellan, M D" uniqKey="Mclellan M" first="M D" last="Mclellan">M D Mclellan</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
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<author><name sortKey="Garrett, J M" sort="Garrett, J M" uniqKey="Garrett J" first="J M" last="Garrett">J M Garrett</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
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<author><name sortKey="Wiechert, M A" sort="Wiechert, M A" uniqKey="Wiechert M" first="M A" last="Wiechert">M A Wiechert</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
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<author><name sortKey="Miner, T L" sort="Miner, T L" uniqKey="Miner T" first="T L" last="Miner">T L Miner</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
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<author><name sortKey="Crosby, S" sort="Crosby, S" uniqKey="Crosby S" first="S" last="Crosby">S. Crosby</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
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<author><name sortKey="Ciccone, R" sort="Ciccone, R" uniqKey="Ciccone R" first="R" last="Ciccone">R. Ciccone</name>
<affiliation wicri:level="1"><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Biologia Generale e Genetica Medica, Università di Pavia, Pavia</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Willatt, L" sort="Willatt, L" uniqKey="Willatt L" first="L" last="Willatt">L. Willatt</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rauch, A" sort="Rauch, A" uniqKey="Rauch A" first="A" last="Rauch">A. Rauch</name>
<affiliation wicri:level="3"><nlm:aff id="A19"> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen</wicri:regionArea>
<placeName><settlement type="city">Erlangen</settlement>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Moyenne-Franconie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zenker, M" sort="Zenker, M" uniqKey="Zenker M" first="M" last="Zenker">M. Zenker</name>
<affiliation wicri:level="3"><nlm:aff id="A19"> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen</wicri:regionArea>
<placeName><settlement type="city">Erlangen</settlement>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Moyenne-Franconie</region>
</placeName>
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</author>
<author><name sortKey="Aradhya, S" sort="Aradhya, S" uniqKey="Aradhya S" first="S" last="Aradhya">S. Aradhya</name>
<affiliation wicri:level="2"><nlm:aff id="A20"> Department of Pathology, Stanford University School of Medicine, Stanford, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Pathology, Stanford University School of Medicine, Stanford, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Manning, M A" sort="Manning, M A" uniqKey="Manning M" first="M A" last="Manning">M A Manning</name>
<affiliation wicri:level="2"><nlm:aff id="A21"> Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Strom, T M" sort="Strom, T M" uniqKey="Strom T" first="T M" last="Strom">T M Strom</name>
<affiliation wicri:level="1"><nlm:aff id="A22"> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg</wicri:regionArea>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wagenstaller, J" sort="Wagenstaller, J" uniqKey="Wagenstaller J" first="J" last="Wagenstaller">J. Wagenstaller</name>
<affiliation wicri:level="1"><nlm:aff id="A22"> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg</wicri:regionArea>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Krepischi Santos, A C" sort="Krepischi Santos, A C" uniqKey="Krepischi Santos A" first="A C" last="Krepischi-Santos">A C Krepischi-Santos</name>
<affiliation wicri:level="4"><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
<settlement type="city">São Paulo</settlement>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
<author><name sortKey="Vianna Morgante, A M" sort="Vianna Morgante, A M" uniqKey="Vianna Morgante A" first="A M" last="Vianna-Morgante">A M Vianna-Morgante</name>
<affiliation wicri:level="4"><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
<settlement type="city">São Paulo</settlement>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
<author><name sortKey="Rosenberg, C" sort="Rosenberg, C" uniqKey="Rosenberg C" first="C" last="Rosenberg">C. Rosenberg</name>
<affiliation wicri:level="4"><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
<settlement type="city">São Paulo</settlement>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
<author><name sortKey="Price, S M" sort="Price, S M" uniqKey="Price S" first="S M" last="Price">S M Price</name>
<affiliation wicri:level="3"><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stewart, H" sort="Stewart, H" uniqKey="Stewart H" first="H" last="Stewart">H. Stewart</name>
<affiliation wicri:level="3"><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shaw Smith, C" sort="Shaw Smith, C" uniqKey="Shaw Smith C" first="C" last="Shaw-Smith">C. Shaw-Smith</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brunner, H G" sort="Brunner, H G" uniqKey="Brunner H" first="H G" last="Brunner">H G Brunner</name>
<affiliation wicri:level="3"><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wilkie, A O M" sort="Wilkie, A O M" uniqKey="Wilkie A" first="A O M" last="Wilkie">A O M. Wilkie</name>
<affiliation wicri:level="4"><nlm:aff id="A24"> Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author><name sortKey="Veltman, J A" sort="Veltman, J A" uniqKey="Veltman J" first="J A" last="Veltman">J A Veltman</name>
<affiliation wicri:level="3"><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zuffardi, O" sort="Zuffardi, O" uniqKey="Zuffardi O" first="O" last="Zuffardi">O. Zuffardi</name>
<affiliation wicri:level="1"><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Biologia Generale e Genetica Medica, Università di Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A17"> Fondazione IRCCS Policlinico San Matteo, Pavia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Fondazione IRCCS Policlinico San Matteo, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Eichler, E E" sort="Eichler, E E" uniqKey="Eichler E" first="E E" last="Eichler">E E Eichler</name>
<affiliation wicri:level="1"><nlm:aff id="A2"> Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Genome Sciences, University of Washington School of Medicine, Seattle</wicri:regionArea>
<wicri:noRegion>Seattle</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A25"> Howard Hughes Medical Institute, Seattle, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Howard Hughes Medical Institute, Seattle</wicri:regionArea>
<wicri:noRegion>Seattle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Vries, B B A" sort="De Vries, B B A" uniqKey="De Vries B" first="B B A" last="De Vries">B B A. De Vries</name>
<affiliation wicri:level="3"><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
</titleStmt>
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<idno type="pmid">18628315</idno>
<idno type="pmc">3071570</idno>
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<idno type="doi">10.1136/jmg.2008.058701</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Clinical and molecular delineation of the 17q21.31 microdeletion syndrome</title>
<author><name sortKey="Koolen, D A" sort="Koolen, D A" uniqKey="Koolen D" first="D A" last="Koolen">D A Koolen</name>
<affiliation wicri:level="3"><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sharp, A J" sort="Sharp, A J" uniqKey="Sharp A" first="A J" last="Sharp">A J Sharp</name>
<affiliation wicri:level="1"><nlm:aff id="A2"> Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Genome Sciences, University of Washington School of Medicine, Seattle</wicri:regionArea>
<wicri:noRegion>Seattle</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A3"> Department of Genetic Medicine and Development, University of Geneva Medical School CMU, Geneva, Switzerland</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea> Department of Genetic Medicine and Development, University of Geneva Medical School CMU, Geneva</wicri:regionArea>
<wicri:noRegion>Geneva</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hurst, J A" sort="Hurst, J A" uniqKey="Hurst J" first="J A" last="Hurst">J A Hurst</name>
<affiliation wicri:level="3"><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Firth, H V" sort="Firth, H V" uniqKey="Firth H" first="H V" last="Firth">H V Firth</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Knight, S J L" sort="Knight, S J L" uniqKey="Knight S" first="S J L" last="Knight">S J L. Knight</name>
<affiliation wicri:level="3"><nlm:aff id="A6"> Oxford Genetics Knowledge Park, The Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Oxford Genetics Knowledge Park, The Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goldenberg, A" sort="Goldenberg, A" uniqKey="Goldenberg A" first="A" last="Goldenberg">A. Goldenberg</name>
<affiliation wicri:level="3"><nlm:aff id="A7"> Department of Genetics, Rouen University Hospital, & Inserm U614, Institute for Biomedical research, University of Rouen, Rouen, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea> Department of Genetics, Rouen University Hospital, & Inserm U614, Institute for Biomedical research, University of Rouen, Rouen</wicri:regionArea>
<placeName><region type="region">Région Normandie</region>
<region type="old region">Haute-Normandie</region>
<settlement type="city">Rouen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Saugier Veber, P" sort="Saugier Veber, P" uniqKey="Saugier Veber P" first="P" last="Saugier-Veber">P. Saugier-Veber</name>
<affiliation wicri:level="3"><nlm:aff id="A7"> Department of Genetics, Rouen University Hospital, & Inserm U614, Institute for Biomedical research, University of Rouen, Rouen, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea> Department of Genetics, Rouen University Hospital, & Inserm U614, Institute for Biomedical research, University of Rouen, Rouen</wicri:regionArea>
<placeName><region type="region">Région Normandie</region>
<region type="old region">Haute-Normandie</region>
<settlement type="city">Rouen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pfundt, R" sort="Pfundt, R" uniqKey="Pfundt R" first="R" last="Pfundt">R. Pfundt</name>
<affiliation wicri:level="3"><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vissers, L E L M" sort="Vissers, L E L M" uniqKey="Vissers L" first="L E L M" last="Vissers">L E L M. Vissers</name>
<affiliation wicri:level="3"><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Destree, A" sort="Destree, A" uniqKey="Destree A" first="A" last="Destrée">A. Destrée</name>
<affiliation wicri:level="1"><nlm:aff id="A8"> Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea> Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies</wicri:regionArea>
<wicri:noRegion>Gosselies</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Grisart, B" sort="Grisart, B" uniqKey="Grisart B" first="B" last="Grisart">B. Grisart</name>
<affiliation wicri:level="1"><nlm:aff id="A8"> Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea> Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies</wicri:regionArea>
<wicri:noRegion>Gosselies</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rooms, L" sort="Rooms, L" uniqKey="Rooms L" first="L" last="Rooms">L. Rooms</name>
<affiliation wicri:level="4"><nlm:aff id="A9"> Department of Medical Genetics, University of Antwerp, Antwerp, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea> Department of Medical Genetics, University of Antwerp, Antwerp</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region>Région flamande</region>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Aa, N Van Der" sort="Aa, N Van Der" uniqKey="Aa N" first="N Van Der" last="Aa">N Van Der Aa</name>
<affiliation wicri:level="1"><nlm:aff id="A10"> Antwerp University Hospital, Antwerp, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea> Antwerp University Hospital, Antwerp</wicri:regionArea>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Field, M" sort="Field, M" uniqKey="Field M" first="M" last="Field">M. Field</name>
<affiliation wicri:level="1"><nlm:aff id="A11"> Hunter Genetics, Hunter New England Area Health Service, Newcastle, NSW, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea> Hunter Genetics, Hunter New England Area Health Service, Newcastle, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hackett, A" sort="Hackett, A" uniqKey="Hackett A" first="A" last="Hackett">A. Hackett</name>
<affiliation wicri:level="1"><nlm:aff id="A11"> Hunter Genetics, Hunter New England Area Health Service, Newcastle, NSW, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea> Hunter Genetics, Hunter New England Area Health Service, Newcastle, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bell, K" sort="Bell, K" uniqKey="Bell K" first="K" last="Bell">K. Bell</name>
<affiliation wicri:level="1"><nlm:aff id="A12"> Genetic Services, McMaster University Medical Centre, Hamilton, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea> Genetic Services, McMaster University Medical Centre, Hamilton</wicri:regionArea>
<wicri:noRegion>Hamilton</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nowaczyk, M J M" sort="Nowaczyk, M J M" uniqKey="Nowaczyk M" first="M J M" last="Nowaczyk">M J M. Nowaczyk</name>
<affiliation wicri:level="4"><nlm:aff id="A13"> Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea> Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario</wicri:regionArea>
<orgName type="university">Université McMaster</orgName>
<placeName><settlement type="city">Hamilton (Ontario)</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mancini, G M S" sort="Mancini, G M S" uniqKey="Mancini G" first="G M S" last="Mancini">G M S. Mancini</name>
<affiliation wicri:level="3"><nlm:aff id="A14"> Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Clinical Genetics, Erasmus Medical Center, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Poddighe, P J" sort="Poddighe, P J" uniqKey="Poddighe P" first="P J" last="Poddighe">P J Poddighe</name>
<affiliation wicri:level="3"><nlm:aff id="A14"> Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Clinical Genetics, Erasmus Medical Center, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schwartz, C E" sort="Schwartz, C E" uniqKey="Schwartz C" first="C E" last="Schwartz">C E Schwartz</name>
<affiliation wicri:level="1"><nlm:aff id="A15"> JC Self Research Institute, Greenwood Genetic Center, Greenwood, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> JC Self Research Institute, Greenwood Genetic Center, Greenwood</wicri:regionArea>
<wicri:noRegion>Greenwood</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rossi, E" sort="Rossi, E" uniqKey="Rossi E" first="E" last="Rossi">E. Rossi</name>
<affiliation wicri:level="1"><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Biologia Generale e Genetica Medica, Università di Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Gregori, M" sort="De Gregori, M" uniqKey="De Gregori M" first="M" last="De Gregori">M. De Gregori</name>
<affiliation wicri:level="1"><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Biologia Generale e Genetica Medica, Università di Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Antonacci Fulton, L L" sort="Antonacci Fulton, L L" uniqKey="Antonacci Fulton L" first="L L" last="Antonacci-Fulton">L L Antonacci-Fulton</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Mclellan, M D" sort="Mclellan, M D" uniqKey="Mclellan M" first="M D" last="Mclellan">M D Mclellan</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Garrett, J M" sort="Garrett, J M" uniqKey="Garrett J" first="J M" last="Garrett">J M Garrett</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Wiechert, M A" sort="Wiechert, M A" uniqKey="Wiechert M" first="M A" last="Wiechert">M A Wiechert</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Miner, T L" sort="Miner, T L" uniqKey="Miner T" first="T L" last="Miner">T L Miner</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Crosby, S" sort="Crosby, S" uniqKey="Crosby S" first="S" last="Crosby">S. Crosby</name>
<affiliation wicri:level="4"><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author><name sortKey="Ciccone, R" sort="Ciccone, R" uniqKey="Ciccone R" first="R" last="Ciccone">R. Ciccone</name>
<affiliation wicri:level="1"><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Biologia Generale e Genetica Medica, Università di Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Willatt, L" sort="Willatt, L" uniqKey="Willatt L" first="L" last="Willatt">L. Willatt</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rauch, A" sort="Rauch, A" uniqKey="Rauch A" first="A" last="Rauch">A. Rauch</name>
<affiliation wicri:level="3"><nlm:aff id="A19"> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen</wicri:regionArea>
<placeName><settlement type="city">Erlangen</settlement>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Moyenne-Franconie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zenker, M" sort="Zenker, M" uniqKey="Zenker M" first="M" last="Zenker">M. Zenker</name>
<affiliation wicri:level="3"><nlm:aff id="A19"> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen</wicri:regionArea>
<placeName><settlement type="city">Erlangen</settlement>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Moyenne-Franconie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Aradhya, S" sort="Aradhya, S" uniqKey="Aradhya S" first="S" last="Aradhya">S. Aradhya</name>
<affiliation wicri:level="2"><nlm:aff id="A20"> Department of Pathology, Stanford University School of Medicine, Stanford, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Pathology, Stanford University School of Medicine, Stanford, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Manning, M A" sort="Manning, M A" uniqKey="Manning M" first="M A" last="Manning">M A Manning</name>
<affiliation wicri:level="2"><nlm:aff id="A21"> Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Strom, T M" sort="Strom, T M" uniqKey="Strom T" first="T M" last="Strom">T M Strom</name>
<affiliation wicri:level="1"><nlm:aff id="A22"> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg</wicri:regionArea>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wagenstaller, J" sort="Wagenstaller, J" uniqKey="Wagenstaller J" first="J" last="Wagenstaller">J. Wagenstaller</name>
<affiliation wicri:level="1"><nlm:aff id="A22"> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg</wicri:regionArea>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
<wicri:noRegion>Munich-Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Krepischi Santos, A C" sort="Krepischi Santos, A C" uniqKey="Krepischi Santos A" first="A C" last="Krepischi-Santos">A C Krepischi-Santos</name>
<affiliation wicri:level="4"><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
<settlement type="city">São Paulo</settlement>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
<author><name sortKey="Vianna Morgante, A M" sort="Vianna Morgante, A M" uniqKey="Vianna Morgante A" first="A M" last="Vianna-Morgante">A M Vianna-Morgante</name>
<affiliation wicri:level="4"><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
<settlement type="city">São Paulo</settlement>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
<author><name sortKey="Rosenberg, C" sort="Rosenberg, C" uniqKey="Rosenberg C" first="C" last="Rosenberg">C. Rosenberg</name>
<affiliation wicri:level="4"><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
<settlement type="city">São Paulo</settlement>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
<author><name sortKey="Price, S M" sort="Price, S M" uniqKey="Price S" first="S M" last="Price">S M Price</name>
<affiliation wicri:level="3"><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stewart, H" sort="Stewart, H" uniqKey="Stewart H" first="H" last="Stewart">H. Stewart</name>
<affiliation wicri:level="3"><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shaw Smith, C" sort="Shaw Smith, C" uniqKey="Shaw Smith C" first="C" last="Shaw-Smith">C. Shaw-Smith</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brunner, H G" sort="Brunner, H G" uniqKey="Brunner H" first="H G" last="Brunner">H G Brunner</name>
<affiliation wicri:level="3"><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wilkie, A O M" sort="Wilkie, A O M" uniqKey="Wilkie A" first="A O M" last="Wilkie">A O M. Wilkie</name>
<affiliation wicri:level="4"><nlm:aff id="A24"> Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea> Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author><name sortKey="Veltman, J A" sort="Veltman, J A" uniqKey="Veltman J" first="J A" last="Veltman">J A Veltman</name>
<affiliation wicri:level="3"><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zuffardi, O" sort="Zuffardi, O" uniqKey="Zuffardi O" first="O" last="Zuffardi">O. Zuffardi</name>
<affiliation wicri:level="1"><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Biologia Generale e Genetica Medica, Università di Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A17"> Fondazione IRCCS Policlinico San Matteo, Pavia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea> Fondazione IRCCS Policlinico San Matteo, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Eichler, E E" sort="Eichler, E E" uniqKey="Eichler E" first="E E" last="Eichler">E E Eichler</name>
<affiliation wicri:level="1"><nlm:aff id="A2"> Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Department of Genome Sciences, University of Washington School of Medicine, Seattle</wicri:regionArea>
<wicri:noRegion>Seattle</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A25"> Howard Hughes Medical Institute, Seattle, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Howard Hughes Medical Institute, Seattle</wicri:regionArea>
<wicri:noRegion>Seattle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Vries, B B A" sort="De Vries, B B A" uniqKey="De Vries B" first="B B A" last="De Vries">B B A. De Vries</name>
<affiliation wicri:level="3"><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Journal of medical genetics</title>
<idno type="ISSN">0022-2593</idno>
<idno type="eISSN">1468-6244</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1">The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation.</p>
</sec>
<sec id="S2"><title>Aim</title>
<p id="P2">We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729–41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (<italic>MAPT</italic>
). Mutation screening of <italic>MAPT</italic>
in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p<10<sup>–5</sup>
).</p>
</sec>
<sec id="S4"><title>Conclusion</title>
<p id="P4">Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.</p>
</sec>
</div>
</front>
</TEI>
<pmc article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">2985087R</journal-id>
<journal-id journal-id-type="pubmed-jr-id">4945</journal-id>
<journal-id journal-id-type="nlm-ta">J Med Genet</journal-id>
<journal-title>Journal of medical genetics</journal-title>
<issn pub-type="ppub">0022-2593</issn>
<issn pub-type="epub">1468-6244</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">18628315</article-id>
<article-id pub-id-type="pmc">3071570</article-id>
<article-id pub-id-type="doi">10.1136/jmg.2008.058701</article-id>
<article-id pub-id-type="manuscript">NIHMS264035</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Clinical and molecular delineation of the 17q21.31 microdeletion syndrome</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Koolen</surname>
<given-names>D A</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sharp</surname>
<given-names>A J</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hurst</surname>
<given-names>J A</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Firth</surname>
<given-names>H V</given-names>
</name>
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</contrib>
<contrib contrib-type="author"><name><surname>Knight</surname>
<given-names>S J L</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Goldenberg</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Saugier-Veber</surname>
<given-names>P</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pfundt</surname>
<given-names>R</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vissers</surname>
<given-names>L E L M</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Destrée</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Grisart</surname>
<given-names>B</given-names>
</name>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rooms</surname>
<given-names>L</given-names>
</name>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Aa</surname>
<given-names>N Van der</given-names>
</name>
<xref ref-type="aff" rid="A10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Field</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="A11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hackett</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="A11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bell</surname>
<given-names>K</given-names>
</name>
<xref ref-type="aff" rid="A12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nowaczyk</surname>
<given-names>M J M</given-names>
</name>
<xref ref-type="aff" rid="A13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mancini</surname>
<given-names>G M S</given-names>
</name>
<xref ref-type="aff" rid="A14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Poddighe</surname>
<given-names>P J</given-names>
</name>
<xref ref-type="aff" rid="A14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schwartz</surname>
<given-names>C E</given-names>
</name>
<xref ref-type="aff" rid="A15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rossi</surname>
<given-names>E</given-names>
</name>
<xref ref-type="aff" rid="A16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>De Gregori</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="A16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Antonacci-Fulton</surname>
<given-names>L L</given-names>
</name>
<xref ref-type="aff" rid="A18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>McLellan</surname>
<given-names>M D</given-names>
<suffix>II</suffix>
</name>
<xref ref-type="aff" rid="A18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Garrett</surname>
<given-names>J M</given-names>
</name>
<xref ref-type="aff" rid="A18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wiechert</surname>
<given-names>M A</given-names>
</name>
<xref ref-type="aff" rid="A18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Miner</surname>
<given-names>T L</given-names>
</name>
<xref ref-type="aff" rid="A18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Crosby</surname>
<given-names>S</given-names>
</name>
<xref ref-type="aff" rid="A18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ciccone</surname>
<given-names>R</given-names>
</name>
<xref ref-type="aff" rid="A16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Willatt</surname>
<given-names>L</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rauch</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="A19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zenker</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="A19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Aradhya</surname>
<given-names>S</given-names>
</name>
<xref ref-type="aff" rid="A20">20</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Manning</surname>
<given-names>M A</given-names>
</name>
<xref ref-type="aff" rid="A21">21</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Strom</surname>
<given-names>T M</given-names>
</name>
<xref ref-type="aff" rid="A22">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wagenstaller</surname>
<given-names>J</given-names>
</name>
<xref ref-type="aff" rid="A22">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Krepischi-Santos</surname>
<given-names>A C</given-names>
</name>
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</contrib>
<contrib contrib-type="author"><name><surname>Vianna-Morgante</surname>
<given-names>A M</given-names>
</name>
<xref ref-type="aff" rid="A23">23</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rosenberg</surname>
<given-names>C</given-names>
</name>
<xref ref-type="aff" rid="A23">23</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Price</surname>
<given-names>S M</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stewart</surname>
<given-names>H</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Shaw-Smith</surname>
<given-names>C</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brunner</surname>
<given-names>H G</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wilkie</surname>
<given-names>A O M</given-names>
</name>
<xref ref-type="aff" rid="A24">24</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Veltman</surname>
<given-names>J A</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zuffardi</surname>
<given-names>O</given-names>
</name>
<xref ref-type="aff" rid="A16">16</xref>
<xref ref-type="aff" rid="A17">17</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Eichler</surname>
<given-names>E E</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A25">25</xref>
</contrib>
<contrib contrib-type="author"><name><surname>de Vries</surname>
<given-names>B B A</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</aff>
<aff id="A2"><label>2</label>
Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA</aff>
<aff id="A3"><label>3</label>
Department of Genetic Medicine and Development, University of Geneva Medical School CMU, Geneva, Switzerland</aff>
<aff id="A4"><label>4</label>
Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</aff>
<aff id="A5"><label>5</label>
Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</aff>
<aff id="A6"><label>6</label>
Oxford Genetics Knowledge Park, The Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford, UK</aff>
<aff id="A7"><label>7</label>
Department of Genetics, Rouen University Hospital, & Inserm U614, Institute for Biomedical research, University of Rouen, Rouen, France</aff>
<aff id="A8"><label>8</label>
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium</aff>
<aff id="A9"><label>9</label>
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium</aff>
<aff id="A10"><label>10</label>
Antwerp University Hospital, Antwerp, Belgium</aff>
<aff id="A11"><label>11</label>
Hunter Genetics, Hunter New England Area Health Service, Newcastle, NSW, Australia</aff>
<aff id="A12"><label>12</label>
Genetic Services, McMaster University Medical Centre, Hamilton, Canada</aff>
<aff id="A13"><label>13</label>
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada</aff>
<aff id="A14"><label>14</label>
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</aff>
<aff id="A15"><label>15</label>
JC Self Research Institute, Greenwood Genetic Center, Greenwood, USA</aff>
<aff id="A16"><label>16</label>
Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</aff>
<aff id="A17"><label>17</label>
Fondazione IRCCS Policlinico San Matteo, Pavia, Italy</aff>
<aff id="A18"><label>18</label>
Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</aff>
<aff id="A19"><label>19</label>
Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany</aff>
<aff id="A20"><label>20</label>
Department of Pathology, Stanford University School of Medicine, Stanford, California, USA</aff>
<aff id="A21"><label>21</label>
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA</aff>
<aff id="A22"><label>22</label>
Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany</aff>
<aff id="A23"><label>23</label>
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</aff>
<aff id="A24"><label>24</label>
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK</aff>
<aff id="A25"><label>25</label>
Howard Hughes Medical Institute, Seattle, USA</aff>
<author-notes><corresp id="CR1">Correspondence to: Dr B B A de Vries, Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands; <email>B.deVries@antrg.umcn.nl</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>12</day>
<month>1</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="epub"><day>15</day>
<month>7</month>
<year>2008</year>
</pub-date>
<pub-date pub-type="ppub"><month>11</month>
<year>2008</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>6</day>
<month>4</month>
<year>2011</year>
</pub-date>
<volume>45</volume>
<issue>11</issue>
<fpage>710</fpage>
<lpage>720</lpage>
<abstract><sec id="S1"><title>Background</title>
<p id="P1">The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation.</p>
</sec>
<sec id="S2"><title>Aim</title>
<p id="P2">We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729–41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (<italic>MAPT</italic>
). Mutation screening of <italic>MAPT</italic>
in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p<10<sup>–5</sup>
).</p>
</sec>
<sec id="S4"><title>Conclusion</title>
<p id="P4">Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.</p>
</sec>
</abstract>
<contract-num rid="HD1">R01 HD043569-06
||HD</contract-num>
<contract-num rid="HHMI_4">HHMI_EICHLER_E
||HHMI_</contract-num>
<contract-sponsor id="HD1">National Institute of Child Health & Human Development : NICHD</contract-sponsor>
<contract-sponsor id="HHMI_4">Howard Hughes Medical Institute</contract-sponsor>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>Brésil</li>
<li>Canada</li>
<li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>Suisse</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Bavière</li>
<li>Californie</li>
<li>District de Moyenne-Franconie</li>
<li>Gueldre</li>
<li>Haute-Normandie</li>
<li>Hollande-Méridionale</li>
<li>Missouri (État)</li>
<li>Ontario</li>
<li>Oxfordshire</li>
<li>Province d'Anvers</li>
<li>Région Normandie</li>
<li>Région flamande</li>
<li>État de São Paulo</li>
</region>
<settlement><li>Anvers</li>
<li>Erlangen</li>
<li>Hamilton (Ontario)</li>
<li>Nimègue</li>
<li>Oxford</li>
<li>Rotterdam</li>
<li>Rouen</li>
<li>Saint-Louis (Missouri)</li>
<li>São Paulo</li>
</settlement>
<orgName><li>Université McMaster</li>
<li>Université d'Anvers</li>
<li>Université d'Oxford</li>
<li>Université de São Paulo</li>
<li>École de médecine (Université Washington de Saint-Louis)</li>
</orgName>
</list>
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</region>
<name sortKey="Brunner, H G" sort="Brunner, H G" uniqKey="Brunner H" first="H G" last="Brunner">H G Brunner</name>
<name sortKey="De Vries, B B A" sort="De Vries, B B A" uniqKey="De Vries B" first="B B A" last="De Vries">B B A. De Vries</name>
<name sortKey="Mancini, G M S" sort="Mancini, G M S" uniqKey="Mancini G" first="G M S" last="Mancini">G M S. Mancini</name>
<name sortKey="Pfundt, R" sort="Pfundt, R" uniqKey="Pfundt R" first="R" last="Pfundt">R. Pfundt</name>
<name sortKey="Poddighe, P J" sort="Poddighe, P J" uniqKey="Poddighe P" first="P J" last="Poddighe">P J Poddighe</name>
<name sortKey="Veltman, J A" sort="Veltman, J A" uniqKey="Veltman J" first="J A" last="Veltman">J A Veltman</name>
<name sortKey="Vissers, L E L M" sort="Vissers, L E L M" uniqKey="Vissers L" first="L E L M" last="Vissers">L E L M. Vissers</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Sharp, A J" sort="Sharp, A J" uniqKey="Sharp A" first="A J" last="Sharp">A J Sharp</name>
</noRegion>
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<name sortKey="Aradhya, S" sort="Aradhya, S" uniqKey="Aradhya S" first="S" last="Aradhya">S. Aradhya</name>
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<name sortKey="Eichler, E E" sort="Eichler, E E" uniqKey="Eichler E" first="E E" last="Eichler">E E Eichler</name>
<name sortKey="Eichler, E E" sort="Eichler, E E" uniqKey="Eichler E" first="E E" last="Eichler">E E Eichler</name>
<name sortKey="Garrett, J M" sort="Garrett, J M" uniqKey="Garrett J" first="J M" last="Garrett">J M Garrett</name>
<name sortKey="Manning, M A" sort="Manning, M A" uniqKey="Manning M" first="M A" last="Manning">M A Manning</name>
<name sortKey="Mclellan, M D" sort="Mclellan, M D" uniqKey="Mclellan M" first="M D" last="Mclellan">M D Mclellan</name>
<name sortKey="Miner, T L" sort="Miner, T L" uniqKey="Miner T" first="T L" last="Miner">T L Miner</name>
<name sortKey="Schwartz, C E" sort="Schwartz, C E" uniqKey="Schwartz C" first="C E" last="Schwartz">C E Schwartz</name>
<name sortKey="Wiechert, M A" sort="Wiechert, M A" uniqKey="Wiechert M" first="M A" last="Wiechert">M A Wiechert</name>
</country>
<country name="Suisse"><noRegion><name sortKey="Sharp, A J" sort="Sharp, A J" uniqKey="Sharp A" first="A J" last="Sharp">A J Sharp</name>
</noRegion>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Hurst, J A" sort="Hurst, J A" uniqKey="Hurst J" first="J A" last="Hurst">J A Hurst</name>
</region>
<name sortKey="Firth, H V" sort="Firth, H V" uniqKey="Firth H" first="H V" last="Firth">H V Firth</name>
<name sortKey="Knight, S J L" sort="Knight, S J L" uniqKey="Knight S" first="S J L" last="Knight">S J L. Knight</name>
<name sortKey="Price, S M" sort="Price, S M" uniqKey="Price S" first="S M" last="Price">S M Price</name>
<name sortKey="Shaw Smith, C" sort="Shaw Smith, C" uniqKey="Shaw Smith C" first="C" last="Shaw-Smith">C. Shaw-Smith</name>
<name sortKey="Stewart, H" sort="Stewart, H" uniqKey="Stewart H" first="H" last="Stewart">H. Stewart</name>
<name sortKey="Wilkie, A O M" sort="Wilkie, A O M" uniqKey="Wilkie A" first="A O M" last="Wilkie">A O M. Wilkie</name>
<name sortKey="Willatt, L" sort="Willatt, L" uniqKey="Willatt L" first="L" last="Willatt">L. Willatt</name>
</country>
<country name="France"><region name="Région Normandie"><name sortKey="Goldenberg, A" sort="Goldenberg, A" uniqKey="Goldenberg A" first="A" last="Goldenberg">A. Goldenberg</name>
</region>
<name sortKey="Saugier Veber, P" sort="Saugier Veber, P" uniqKey="Saugier Veber P" first="P" last="Saugier-Veber">P. Saugier-Veber</name>
</country>
<country name="Belgique"><noRegion><name sortKey="Destree, A" sort="Destree, A" uniqKey="Destree A" first="A" last="Destrée">A. Destrée</name>
</noRegion>
<name sortKey="Aa, N Van Der" sort="Aa, N Van Der" uniqKey="Aa N" first="N Van Der" last="Aa">N Van Der Aa</name>
<name sortKey="Grisart, B" sort="Grisart, B" uniqKey="Grisart B" first="B" last="Grisart">B. Grisart</name>
<name sortKey="Rooms, L" sort="Rooms, L" uniqKey="Rooms L" first="L" last="Rooms">L. Rooms</name>
</country>
<country name="Australie"><noRegion><name sortKey="Field, M" sort="Field, M" uniqKey="Field M" first="M" last="Field">M. Field</name>
</noRegion>
<name sortKey="Hackett, A" sort="Hackett, A" uniqKey="Hackett A" first="A" last="Hackett">A. Hackett</name>
</country>
<country name="Canada"><noRegion><name sortKey="Bell, K" sort="Bell, K" uniqKey="Bell K" first="K" last="Bell">K. Bell</name>
</noRegion>
<name sortKey="Nowaczyk, M J M" sort="Nowaczyk, M J M" uniqKey="Nowaczyk M" first="M J M" last="Nowaczyk">M J M. Nowaczyk</name>
</country>
<country name="Italie"><noRegion><name sortKey="Rossi, E" sort="Rossi, E" uniqKey="Rossi E" first="E" last="Rossi">E. Rossi</name>
</noRegion>
<name sortKey="Ciccone, R" sort="Ciccone, R" uniqKey="Ciccone R" first="R" last="Ciccone">R. Ciccone</name>
<name sortKey="De Gregori, M" sort="De Gregori, M" uniqKey="De Gregori M" first="M" last="De Gregori">M. De Gregori</name>
<name sortKey="Zuffardi, O" sort="Zuffardi, O" uniqKey="Zuffardi O" first="O" last="Zuffardi">O. Zuffardi</name>
<name sortKey="Zuffardi, O" sort="Zuffardi, O" uniqKey="Zuffardi O" first="O" last="Zuffardi">O. Zuffardi</name>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Rauch, A" sort="Rauch, A" uniqKey="Rauch A" first="A" last="Rauch">A. Rauch</name>
</region>
<name sortKey="Strom, T M" sort="Strom, T M" uniqKey="Strom T" first="T M" last="Strom">T M Strom</name>
<name sortKey="Wagenstaller, J" sort="Wagenstaller, J" uniqKey="Wagenstaller J" first="J" last="Wagenstaller">J. Wagenstaller</name>
<name sortKey="Zenker, M" sort="Zenker, M" uniqKey="Zenker M" first="M" last="Zenker">M. Zenker</name>
</country>
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<name sortKey="Vianna Morgante, A M" sort="Vianna Morgante, A M" uniqKey="Vianna Morgante A" first="A M" last="Vianna-Morgante">A M Vianna-Morgante</name>
</country>
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</affiliations>
</record>
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