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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">De Novo Mutations in <italic>SON</italic> Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome</title><author><name sortKey="Kim, Jung Hyun" sort="Kim, Jung Hyun" uniqKey="Kim J" first="Jung-Hyun" last="Kim">Jung-Hyun Kim</name><affiliation><nlm:aff id="aff1">Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</nlm:aff></affiliation></author><author><name sortKey="Shinde, Deepali N" sort="Shinde, Deepali N" uniqKey="Shinde D" first="Deepali N." last="Shinde">Deepali N. Shinde</name><affiliation><nlm:aff id="aff2">Ambry Genetics, Aliso Viejo, CA 92656, USA</nlm:aff></affiliation></author><author><name sortKey="Reijnders, Margot R F" sort="Reijnders, Margot R F" uniqKey="Reijnders M" first="Margot R. F." last="Reijnders">Margot R. F. Reijnders</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hauser, Natalie S" sort="Hauser, Natalie S" uniqKey="Hauser N" first="Natalie S." last="Hauser">Natalie S. Hauser</name><affiliation><nlm:aff id="aff4">Medical Genetics and Metabolism, Valley Children’s Hospital, Madera, CA 93636, USA</nlm:aff></affiliation></author><author><name sortKey="Belmonte, Rebecca L" sort="Belmonte, Rebecca L" uniqKey="Belmonte R" first="Rebecca L." last="Belmonte">Rebecca L. Belmonte</name><affiliation><nlm:aff id="aff5">Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA</nlm:aff></affiliation></author><author><name sortKey="Wilson, Gregory R" sort="Wilson, Gregory R" uniqKey="Wilson G" first="Gregory R." last="Wilson">Gregory R. Wilson</name><affiliation><nlm:aff id="aff5">Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA</nlm:aff></affiliation></author><author><name sortKey="Bosch, Danielle G M" sort="Bosch, Danielle G M" uniqKey="Bosch D" first="Daniëlle G. M." last="Bosch">Daniëlle G. M. Bosch</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Bubulya, Paula A" sort="Bubulya, Paula A" uniqKey="Bubulya P" first="Paula A." last="Bubulya">Paula A. Bubulya</name><affiliation><nlm:aff id="aff6">Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA</nlm:aff></affiliation></author><author><name sortKey="Shashi, Vandana" sort="Shashi, Vandana" uniqKey="Shashi V" first="Vandana" last="Shashi">Vandana Shashi</name><affiliation><nlm:aff id="aff7">Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA</nlm:aff></affiliation></author><author><name sortKey="Petrovski, Slave" sort="Petrovski, Slave" uniqKey="Petrovski S" first="Slavé" last="Petrovski">Slavé Petrovski</name><affiliation><nlm:aff id="aff8">Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA</nlm:aff></affiliation></author><author><name sortKey="Stone, Joshua K" sort="Stone, Joshua K" uniqKey="Stone J" first="Joshua K." last="Stone">Joshua K. Stone</name><affiliation><nlm:aff id="aff1">Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</nlm:aff></affiliation></author><author><name sortKey="Park, Eun Young" sort="Park, Eun Young" uniqKey="Park E" first="Eun Young" last="Park">Eun Young Park</name><affiliation><nlm:aff id="aff1">Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</nlm:aff></affiliation></author><author><name sortKey="Veltman, Joris A" sort="Veltman, Joris A" uniqKey="Veltman J" first="Joris A." last="Veltman">Joris A. Veltman</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stumpel, Connie T R M" sort="Stumpel, Connie T R M" uniqKey="Stumpel C" first="Connie T. R. M." last="Stumpel">Connie T. R. M. Stumpel</name><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Draaisma, Jos M" sort="Draaisma, Jos M" uniqKey="Draaisma J" first="Jos M." last="Draaisma">Jos M. Draaisma</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, Radboudumc Amalia Children’s Hospital, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Nicolai, Joost" sort="Nicolai, Joost" uniqKey="Nicolai J" first="Joost" last="Nicolai">Joost Nicolai</name><affiliation><nlm:aff id="aff12">Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Lindstrom, Kristin" sort="Lindstrom, Kristin" uniqKey="Lindstrom K" first="Kristin" last="Lindstrom">Kristin Lindstrom</name><affiliation><nlm:aff id="aff13">Division of Genetics and Metabolism, Phoenix Children’s Hospital, Phoenix, AZ 85016, USA</nlm:aff></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B. A." last="De Vries">Bert B. A. De Vries</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Jewett, Tamison" sort="Jewett, Tamison" uniqKey="Jewett T" first="Tamison" last="Jewett">Tamison Jewett</name><affiliation><nlm:aff id="aff14">Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA</nlm:aff></affiliation></author><author><name sortKey="Santoro, Stephanie L" sort="Santoro, Stephanie L" uniqKey="Santoro S" first="Stephanie L." last="Santoro">Stephanie L. Santoro</name><affiliation><nlm:aff id="aff15">Nationwide Children’s Hospital, Columbus, OH 43205, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">Ohio State University College of Medicine, Columbus, OH 43210, USA</nlm:aff></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation><nlm:aff id="aff17">West Midlands Regional Genetics Service, Birmingham Women’s NHS Foundation Trust, Birmingham B15 2TG, UK</nlm:aff></affiliation></author><author><name sortKey="Bachman, Kristine K" sort="Bachman, Kristine K" uniqKey="Bachman K" first="Kristine K." last="Bachman">Kristine K. Bachman</name><affiliation><nlm:aff id="aff19">Geisinger Medical Center, Danville, PA 17822, USA</nlm:aff></affiliation></author><author><name sortKey="Seeley, Andrea H" sort="Seeley, Andrea H" uniqKey="Seeley A" first="Andrea H." last="Seeley">Andrea H. Seeley</name><affiliation><nlm:aff id="aff19">Geisinger Medical Center, Danville, PA 17822, USA</nlm:aff></affiliation></author><author><name sortKey="Krokosky, Alyson" sort="Krokosky, Alyson" uniqKey="Krokosky A" first="Alyson" last="Krokosky">Alyson Krokosky</name><affiliation><nlm:aff id="aff20">Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA</nlm:aff></affiliation></author><author><name sortKey="Turner, Clesson" sort="Turner, Clesson" uniqKey="Turner C" first="Clesson" last="Turner">Clesson Turner</name><affiliation><nlm:aff id="aff20">Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA</nlm:aff></affiliation></author><author><name sortKey="Rohena, Luis" sort="Rohena, Luis" uniqKey="Rohena L" first="Luis" last="Rohena">Luis Rohena</name><affiliation><nlm:aff id="aff21">Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff22">Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA</nlm:aff></affiliation></author><author><name sortKey="Hempel, Maja" sort="Hempel, Maja" uniqKey="Hempel M" first="Maja" last="Hempel">Maja Hempel</name><affiliation><nlm:aff id="aff23">Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Kortum, Fanny" sort="Kortum, Fanny" uniqKey="Kortum F" first="Fanny" last="Kortüm">Fanny Kortüm</name><affiliation><nlm:aff id="aff23">Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Lessel, Davor" sort="Lessel, Davor" uniqKey="Lessel D" first="Davor" last="Lessel">Davor Lessel</name><affiliation><nlm:aff id="aff23">Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Neu, Axel" sort="Neu, Axel" uniqKey="Neu A" first="Axel" last="Neu">Axel Neu</name><affiliation><nlm:aff id="aff24">Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M." last="Strom">Tim M. Strom</name><affiliation><nlm:aff id="aff25">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff26">Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation><nlm:aff id="aff27">Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff28">Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany</nlm:aff></affiliation></author><author><name sortKey="Bramswig, Nuria" sort="Bramswig, Nuria" uniqKey="Bramswig N" first="Nuria" last="Bramswig">Nuria Bramswig</name><affiliation><nlm:aff id="aff28">Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany</nlm:aff></affiliation></author><author><name sortKey="Laccone, Franco A" sort="Laccone, Franco A" uniqKey="Laccone F" first="Franco A." last="Laccone">Franco A. Laccone</name><affiliation><nlm:aff id="aff29">Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Behunova, Jana" sort="Behunova, Jana" uniqKey="Behunova J" first="Jana" last="Behunova">Jana Behunova</name><affiliation><nlm:aff id="aff29">Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Rehder, Helga" sort="Rehder, Helga" uniqKey="Rehder H" first="Helga" last="Rehder">Helga Rehder</name><affiliation><nlm:aff id="aff29">Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</name><affiliation><nlm:aff id="aff30">Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff31">Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name><affiliation><nlm:aff id="aff32">Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Romana, Serge" sort="Romana, Serge" uniqKey="Romana S" first="Serge" last="Romana">Serge Romana</name><affiliation><nlm:aff id="aff33">Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff34">Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name><affiliation><nlm:aff id="aff2">Ambry Genetics, Aliso Viejo, CA 92656, USA</nlm:aff></affiliation></author><author><name sortKey="El Khechen, Dima" sort="El Khechen, Dima" uniqKey="El Khechen D" first="Dima" last="El-Khechen">Dima El-Khechen</name><affiliation><nlm:aff id="aff2">Ambry Genetics, Aliso Viejo, CA 92656, USA</nlm:aff></affiliation></author><author><name sortKey="Cho, Megan T" sort="Cho, Megan T" uniqKey="Cho M" first="Megan T." last="Cho">Megan T. Cho</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Mcwalter, Kirsty" sort="Mcwalter, Kirsty" uniqKey="Mcwalter K" first="Kirsty" last="Mcwalter">Kirsty Mcwalter</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Douglas, Ganka" sort="Douglas, Ganka" uniqKey="Douglas G" first="Ganka" last="Douglas">Ganka Douglas</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Baskin, Berivan" sort="Baskin, Berivan" uniqKey="Baskin B" first="Berivan" last="Baskin">Berivan Baskin</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Begtrup, Amber" sort="Begtrup, Amber" uniqKey="Begtrup A" first="Amber" last="Begtrup">Amber Begtrup</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Funari, Tara" sort="Funari, Tara" uniqKey="Funari T" first="Tara" last="Funari">Tara Funari</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Schoch, Kelly" sort="Schoch, Kelly" uniqKey="Schoch K" first="Kelly" last="Schoch">Kelly Schoch</name><affiliation><nlm:aff id="aff7">Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA</nlm:aff></affiliation></author><author><name sortKey="Stegmann, Alexander P A" sort="Stegmann, Alexander P A" uniqKey="Stegmann A" first="Alexander P. A." last="Stegmann">Alexander P. A. Stegmann</name><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stevens, Servi J C" sort="Stevens, Servi J C" uniqKey="Stevens S" first="Servi J. C." last="Stevens">Servi J. C. Stevens</name><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Zhang, Dong Er" sort="Zhang, Dong Er" uniqKey="Zhang D" first="Dong-Er" last="Zhang">Dong-Er Zhang</name><affiliation><nlm:aff id="aff36">Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff37">Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff38">Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA</nlm:aff></affiliation></author><author><name sortKey="Traver, David" sort="Traver, David" uniqKey="Traver D" first="David" last="Traver">David Traver</name><affiliation><nlm:aff id="aff38">Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA</nlm:aff></affiliation></author><author><name sortKey="Yao, Xu" sort="Yao, Xu" uniqKey="Yao X" first="Xu" last="Yao">Xu Yao</name><affiliation><nlm:aff id="aff36">Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA</nlm:aff></affiliation></author><author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name><affiliation><nlm:aff id="aff39">Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff40">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff41">Department of Medicine, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Mancini, Grazia M" sort="Mancini, Grazia M" uniqKey="Mancini G" first="Grazia M." last="Mancini">Grazia M. Mancini</name><affiliation><nlm:aff id="aff42">Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Myers, Richard M" sort="Myers, Richard M" uniqKey="Myers R" first="Richard M." last="Myers">Richard M. Myers</name><affiliation><nlm:aff id="aff43">HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA</nlm:aff></affiliation></author><author><name sortKey="Owen, Laurie B" sort="Owen, Laurie B" uniqKey="Owen L" first="Laurie B." last="Owen">Laurie B. Owen</name><affiliation><nlm:aff id="aff1">Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</nlm:aff></affiliation></author><author><name sortKey="Lim, Ssang Taek" sort="Lim, Ssang Taek" uniqKey="Lim S" first="Ssang-Taek" last="Lim">Ssang-Taek Lim</name><affiliation><nlm:aff id="aff44">Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA</nlm:aff></affiliation></author><author><name sortKey="Stachura, David L" sort="Stachura, David L" uniqKey="Stachura D" first="David L." last="Stachura">David L. Stachura</name><affiliation><nlm:aff id="aff5">Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA</nlm:aff></affiliation></author><author><name sortKey="Vissers, Lisenka E L M" sort="Vissers, Lisenka E L M" uniqKey="Vissers L" first="Lisenka E. L. M." last="Vissers">Lisenka E. L. M. Vissers</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Ahn, Eun Young Erin" sort="Ahn, Eun Young Erin" uniqKey="Ahn E" first="Eun-Young Erin" last="Ahn">Eun-Young Erin Ahn</name><affiliation><nlm:aff id="aff1">Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff44">Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27545680</idno><idno type="pmc">5011044</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044</idno><idno type="RBID">PMC:5011044</idno><idno type="doi">10.1016/j.ajhg.2016.06.029</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">001219</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001219</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">De Novo Mutations in <italic>SON</italic> Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome</title><author><name sortKey="Kim, Jung Hyun" sort="Kim, Jung Hyun" uniqKey="Kim J" first="Jung-Hyun" last="Kim">Jung-Hyun Kim</name><affiliation><nlm:aff id="aff1">Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</nlm:aff></affiliation></author><author><name sortKey="Shinde, Deepali N" sort="Shinde, Deepali N" uniqKey="Shinde D" first="Deepali N." last="Shinde">Deepali N. Shinde</name><affiliation><nlm:aff id="aff2">Ambry Genetics, Aliso Viejo, CA 92656, USA</nlm:aff></affiliation></author><author><name sortKey="Reijnders, Margot R F" sort="Reijnders, Margot R F" uniqKey="Reijnders M" first="Margot R. F." last="Reijnders">Margot R. F. Reijnders</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hauser, Natalie S" sort="Hauser, Natalie S" uniqKey="Hauser N" first="Natalie S." last="Hauser">Natalie S. Hauser</name><affiliation><nlm:aff id="aff4">Medical Genetics and Metabolism, Valley Children’s Hospital, Madera, CA 93636, USA</nlm:aff></affiliation></author><author><name sortKey="Belmonte, Rebecca L" sort="Belmonte, Rebecca L" uniqKey="Belmonte R" first="Rebecca L." last="Belmonte">Rebecca L. Belmonte</name><affiliation><nlm:aff id="aff5">Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA</nlm:aff></affiliation></author><author><name sortKey="Wilson, Gregory R" sort="Wilson, Gregory R" uniqKey="Wilson G" first="Gregory R." last="Wilson">Gregory R. Wilson</name><affiliation><nlm:aff id="aff5">Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA</nlm:aff></affiliation></author><author><name sortKey="Bosch, Danielle G M" sort="Bosch, Danielle G M" uniqKey="Bosch D" first="Daniëlle G. M." last="Bosch">Daniëlle G. M. Bosch</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Bubulya, Paula A" sort="Bubulya, Paula A" uniqKey="Bubulya P" first="Paula A." last="Bubulya">Paula A. Bubulya</name><affiliation><nlm:aff id="aff6">Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA</nlm:aff></affiliation></author><author><name sortKey="Shashi, Vandana" sort="Shashi, Vandana" uniqKey="Shashi V" first="Vandana" last="Shashi">Vandana Shashi</name><affiliation><nlm:aff id="aff7">Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA</nlm:aff></affiliation></author><author><name sortKey="Petrovski, Slave" sort="Petrovski, Slave" uniqKey="Petrovski S" first="Slavé" last="Petrovski">Slavé Petrovski</name><affiliation><nlm:aff id="aff8">Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA</nlm:aff></affiliation></author><author><name sortKey="Stone, Joshua K" sort="Stone, Joshua K" uniqKey="Stone J" first="Joshua K." last="Stone">Joshua K. Stone</name><affiliation><nlm:aff id="aff1">Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</nlm:aff></affiliation></author><author><name sortKey="Park, Eun Young" sort="Park, Eun Young" uniqKey="Park E" first="Eun Young" last="Park">Eun Young Park</name><affiliation><nlm:aff id="aff1">Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</nlm:aff></affiliation></author><author><name sortKey="Veltman, Joris A" sort="Veltman, Joris A" uniqKey="Veltman J" first="Joris A." last="Veltman">Joris A. Veltman</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stumpel, Connie T R M" sort="Stumpel, Connie T R M" uniqKey="Stumpel C" first="Connie T. R. M." last="Stumpel">Connie T. R. M. Stumpel</name><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Draaisma, Jos M" sort="Draaisma, Jos M" uniqKey="Draaisma J" first="Jos M." last="Draaisma">Jos M. Draaisma</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, Radboudumc Amalia Children’s Hospital, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Nicolai, Joost" sort="Nicolai, Joost" uniqKey="Nicolai J" first="Joost" last="Nicolai">Joost Nicolai</name><affiliation><nlm:aff id="aff12">Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Lindstrom, Kristin" sort="Lindstrom, Kristin" uniqKey="Lindstrom K" first="Kristin" last="Lindstrom">Kristin Lindstrom</name><affiliation><nlm:aff id="aff13">Division of Genetics and Metabolism, Phoenix Children’s Hospital, Phoenix, AZ 85016, USA</nlm:aff></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B. A." last="De Vries">Bert B. A. De Vries</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Jewett, Tamison" sort="Jewett, Tamison" uniqKey="Jewett T" first="Tamison" last="Jewett">Tamison Jewett</name><affiliation><nlm:aff id="aff14">Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA</nlm:aff></affiliation></author><author><name sortKey="Santoro, Stephanie L" sort="Santoro, Stephanie L" uniqKey="Santoro S" first="Stephanie L." last="Santoro">Stephanie L. Santoro</name><affiliation><nlm:aff id="aff15">Nationwide Children’s Hospital, Columbus, OH 43205, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">Ohio State University College of Medicine, Columbus, OH 43210, USA</nlm:aff></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation><nlm:aff id="aff17">West Midlands Regional Genetics Service, Birmingham Women’s NHS Foundation Trust, Birmingham B15 2TG, UK</nlm:aff></affiliation></author><author><name sortKey="Bachman, Kristine K" sort="Bachman, Kristine K" uniqKey="Bachman K" first="Kristine K." last="Bachman">Kristine K. Bachman</name><affiliation><nlm:aff id="aff19">Geisinger Medical Center, Danville, PA 17822, USA</nlm:aff></affiliation></author><author><name sortKey="Seeley, Andrea H" sort="Seeley, Andrea H" uniqKey="Seeley A" first="Andrea H." last="Seeley">Andrea H. Seeley</name><affiliation><nlm:aff id="aff19">Geisinger Medical Center, Danville, PA 17822, USA</nlm:aff></affiliation></author><author><name sortKey="Krokosky, Alyson" sort="Krokosky, Alyson" uniqKey="Krokosky A" first="Alyson" last="Krokosky">Alyson Krokosky</name><affiliation><nlm:aff id="aff20">Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA</nlm:aff></affiliation></author><author><name sortKey="Turner, Clesson" sort="Turner, Clesson" uniqKey="Turner C" first="Clesson" last="Turner">Clesson Turner</name><affiliation><nlm:aff id="aff20">Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA</nlm:aff></affiliation></author><author><name sortKey="Rohena, Luis" sort="Rohena, Luis" uniqKey="Rohena L" first="Luis" last="Rohena">Luis Rohena</name><affiliation><nlm:aff id="aff21">Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff22">Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA</nlm:aff></affiliation></author><author><name sortKey="Hempel, Maja" sort="Hempel, Maja" uniqKey="Hempel M" first="Maja" last="Hempel">Maja Hempel</name><affiliation><nlm:aff id="aff23">Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Kortum, Fanny" sort="Kortum, Fanny" uniqKey="Kortum F" first="Fanny" last="Kortüm">Fanny Kortüm</name><affiliation><nlm:aff id="aff23">Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Lessel, Davor" sort="Lessel, Davor" uniqKey="Lessel D" first="Davor" last="Lessel">Davor Lessel</name><affiliation><nlm:aff id="aff23">Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Neu, Axel" sort="Neu, Axel" uniqKey="Neu A" first="Axel" last="Neu">Axel Neu</name><affiliation><nlm:aff id="aff24">Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M." last="Strom">Tim M. Strom</name><affiliation><nlm:aff id="aff25">Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff26">Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation><nlm:aff id="aff27">Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff28">Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany</nlm:aff></affiliation></author><author><name sortKey="Bramswig, Nuria" sort="Bramswig, Nuria" uniqKey="Bramswig N" first="Nuria" last="Bramswig">Nuria Bramswig</name><affiliation><nlm:aff id="aff28">Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany</nlm:aff></affiliation></author><author><name sortKey="Laccone, Franco A" sort="Laccone, Franco A" uniqKey="Laccone F" first="Franco A." last="Laccone">Franco A. Laccone</name><affiliation><nlm:aff id="aff29">Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Behunova, Jana" sort="Behunova, Jana" uniqKey="Behunova J" first="Jana" last="Behunova">Jana Behunova</name><affiliation><nlm:aff id="aff29">Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Rehder, Helga" sort="Rehder, Helga" uniqKey="Rehder H" first="Helga" last="Rehder">Helga Rehder</name><affiliation><nlm:aff id="aff29">Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria</nlm:aff></affiliation></author><author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</name><affiliation><nlm:aff id="aff30">Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff31">Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name><affiliation><nlm:aff id="aff32">Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Romana, Serge" sort="Romana, Serge" uniqKey="Romana S" first="Serge" last="Romana">Serge Romana</name><affiliation><nlm:aff id="aff33">Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff34">Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name><affiliation><nlm:aff id="aff2">Ambry Genetics, Aliso Viejo, CA 92656, USA</nlm:aff></affiliation></author><author><name sortKey="El Khechen, Dima" sort="El Khechen, Dima" uniqKey="El Khechen D" first="Dima" last="El-Khechen">Dima El-Khechen</name><affiliation><nlm:aff id="aff2">Ambry Genetics, Aliso Viejo, CA 92656, USA</nlm:aff></affiliation></author><author><name sortKey="Cho, Megan T" sort="Cho, Megan T" uniqKey="Cho M" first="Megan T." last="Cho">Megan T. Cho</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Mcwalter, Kirsty" sort="Mcwalter, Kirsty" uniqKey="Mcwalter K" first="Kirsty" last="Mcwalter">Kirsty Mcwalter</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Douglas, Ganka" sort="Douglas, Ganka" uniqKey="Douglas G" first="Ganka" last="Douglas">Ganka Douglas</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Baskin, Berivan" sort="Baskin, Berivan" uniqKey="Baskin B" first="Berivan" last="Baskin">Berivan Baskin</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Begtrup, Amber" sort="Begtrup, Amber" uniqKey="Begtrup A" first="Amber" last="Begtrup">Amber Begtrup</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Funari, Tara" sort="Funari, Tara" uniqKey="Funari T" first="Tara" last="Funari">Tara Funari</name><affiliation><nlm:aff id="aff35">GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</nlm:aff></affiliation></author><author><name sortKey="Schoch, Kelly" sort="Schoch, Kelly" uniqKey="Schoch K" first="Kelly" last="Schoch">Kelly Schoch</name><affiliation><nlm:aff id="aff7">Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA</nlm:aff></affiliation></author><author><name sortKey="Stegmann, Alexander P A" sort="Stegmann, Alexander P A" uniqKey="Stegmann A" first="Alexander P. A." last="Stegmann">Alexander P. A. Stegmann</name><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Stevens, Servi J C" sort="Stevens, Servi J C" uniqKey="Stevens S" first="Servi J. C." last="Stevens">Servi J. C. Stevens</name><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Zhang, Dong Er" sort="Zhang, Dong Er" uniqKey="Zhang D" first="Dong-Er" last="Zhang">Dong-Er Zhang</name><affiliation><nlm:aff id="aff36">Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff37">Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff38">Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA</nlm:aff></affiliation></author><author><name sortKey="Traver, David" sort="Traver, David" uniqKey="Traver D" first="David" last="Traver">David Traver</name><affiliation><nlm:aff id="aff38">Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA</nlm:aff></affiliation></author><author><name sortKey="Yao, Xu" sort="Yao, Xu" uniqKey="Yao X" first="Xu" last="Yao">Xu Yao</name><affiliation><nlm:aff id="aff36">Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA</nlm:aff></affiliation></author><author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name><affiliation><nlm:aff id="aff39">Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff40">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff41">Department of Medicine, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Mancini, Grazia M" sort="Mancini, Grazia M" uniqKey="Mancini G" first="Grazia M." last="Mancini">Grazia M. Mancini</name><affiliation><nlm:aff id="aff42">Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Myers, Richard M" sort="Myers, Richard M" uniqKey="Myers R" first="Richard M." last="Myers">Richard M. Myers</name><affiliation><nlm:aff id="aff43">HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA</nlm:aff></affiliation></author><author><name sortKey="Owen, Laurie B" sort="Owen, Laurie B" uniqKey="Owen L" first="Laurie B." last="Owen">Laurie B. Owen</name><affiliation><nlm:aff id="aff1">Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</nlm:aff></affiliation></author><author><name sortKey="Lim, Ssang Taek" sort="Lim, Ssang Taek" uniqKey="Lim S" first="Ssang-Taek" last="Lim">Ssang-Taek Lim</name><affiliation><nlm:aff id="aff44">Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA</nlm:aff></affiliation></author><author><name sortKey="Stachura, David L" sort="Stachura, David L" uniqKey="Stachura D" first="David L." last="Stachura">David L. Stachura</name><affiliation><nlm:aff id="aff5">Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA</nlm:aff></affiliation></author><author><name sortKey="Vissers, Lisenka E L M" sort="Vissers, Lisenka E L M" uniqKey="Vissers L" first="Lisenka E. L. M." last="Vissers">Lisenka E. L. M. Vissers</name><affiliation><nlm:aff id="aff3">Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff></affiliation></author><author><name sortKey="Ahn, Eun Young Erin" sort="Ahn, Eun Young Erin" uniqKey="Ahn E" first="Eun-Young Erin" last="Ahn">Eun-Young Erin Ahn</name><affiliation><nlm:aff id="aff1">Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff44">Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, are often lacking. Here, we report on an ID syndrome caused by de novo heterozygous loss-of-function (LoF) mutations in <italic>SON</italic>. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Knockdown of <italic>son</italic> in zebrafish resulted in severe malformation of the spine, brain, and eyes. Importantly, analyses of RNA from affected individuals revealed that genes critical for neuronal migration and cortex organization (<italic>TUBG1</italic>, <italic>FLNA</italic>, <italic>PNKP</italic>, <italic>WDR62</italic>, <italic>PSMD3</italic>, and <italic>HDAC6</italic>) and metabolism (<italic>PCK2</italic>, <italic>PFKL</italic>, <italic>IDH2</italic>, <italic>ACY1</italic>, and <italic>ADA</italic>) are significantly downregulated because of the accumulation of mis-spliced transcripts resulting from erroneous SON-mediated RNA splicing. Our data highlight SON as a master regulator governing neurodevelopment and demonstrate the importance of SON-mediated RNA splicing in human development.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27545680</article-id><article-id pub-id-type="pmc">5011044</article-id><article-id pub-id-type="publisher-id">S0002-9297(16)30267-1</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2016.06.029</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>De Novo Mutations in <italic>SON</italic> Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Kim</surname><given-names>Jung-Hyun</given-names></name><xref 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contrib-type="author"><name><surname>Zhang</surname><given-names>Dong-Er</given-names></name><xref rid="aff36" ref-type="aff">36</xref><xref rid="aff37" ref-type="aff">37</xref><xref rid="aff38" ref-type="aff">38</xref></contrib><contrib contrib-type="author"><name><surname>Traver</surname><given-names>David</given-names></name><xref rid="aff38" ref-type="aff">38</xref></contrib><contrib contrib-type="author"><name><surname>Yao</surname><given-names>Xu</given-names></name><xref rid="aff36" ref-type="aff">36</xref></contrib><contrib contrib-type="author"><name><surname>MacArthur</surname><given-names>Daniel G.</given-names></name><xref rid="aff39" ref-type="aff">39</xref><xref rid="aff40" ref-type="aff">40</xref><xref rid="aff41" ref-type="aff">41</xref></contrib><contrib contrib-type="author"><name><surname>Brunner</surname><given-names>Han G.</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Mancini</surname><given-names>Grazia M.</given-names></name><xref rid="aff42" ref-type="aff">42</xref></contrib><contrib contrib-type="author"><name><surname>Myers</surname><given-names>Richard M.</given-names></name><xref rid="aff43" ref-type="aff">43</xref></contrib><contrib contrib-type="author"><name><surname>Owen</surname><given-names>Laurie B.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Lim</surname><given-names>Ssang-Taek</given-names></name><xref rid="aff44" ref-type="aff">44</xref></contrib><contrib contrib-type="author"><name><surname>Stachura</surname><given-names>David L.</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Vissers</surname><given-names>Lisenka E.L.M.</given-names></name><email>lisenka.vissers@radboudumc.nl</email><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">45</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib><contrib contrib-type="author"><name><surname>Ahn</surname><given-names>Eun-Young Erin</given-names></name><email>eahn@health.southalabama.edu</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff44" ref-type="aff">44</xref><xref rid="fn1" ref-type="fn">45</xref><xref rid="cor2" ref-type="corresp">∗∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA</aff><aff id="aff2"><label>2</label>Ambry Genetics, Aliso Viejo, CA 92656, USA</aff><aff id="aff3"><label>3</label>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</aff><aff id="aff4"><label>4</label>Medical Genetics and Metabolism, Valley Children’s Hospital, Madera, CA 93636, USA</aff><aff id="aff5"><label>5</label>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA</aff><aff id="aff6"><label>6</label>Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA</aff><aff id="aff7"><label>7</label>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA</aff><aff id="aff8"><label>8</label>Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia</aff><aff id="aff9"><label>9</label>Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA</aff><aff id="aff10"><label>10</label>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands</aff><aff id="aff11"><label>11</label>Department of Pediatrics, Radboudumc Amalia Children’s Hospital, 6500 HB Nijmegen, the Netherlands</aff><aff id="aff12"><label>12</label>Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands</aff><aff id="aff13"><label>13</label>Division of Genetics and Metabolism, Phoenix Children’s Hospital, Phoenix, AZ 85016, USA</aff><aff id="aff14"><label>14</label>Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA</aff><aff id="aff15"><label>15</label>Nationwide Children’s Hospital, Columbus, OH 43205, USA</aff><aff id="aff16"><label>16</label>Ohio State University College of Medicine, Columbus, OH 43210, USA</aff><aff id="aff17"><label>17</label>West Midlands Regional Genetics Service, Birmingham Women’s NHS Foundation Trust, Birmingham B15 2TG, UK</aff><aff id="aff18"><label>18</label>Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK</aff><aff id="aff19"><label>19</label>Geisinger Medical Center, Danville, PA 17822, USA</aff><aff id="aff20"><label>20</label>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA</aff><aff id="aff21"><label>21</label>Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA</aff><aff id="aff22"><label>22</label>Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA</aff><aff id="aff23"><label>23</label>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</aff><aff id="aff24"><label>24</label>Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany</aff><aff id="aff25"><label>25</label>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany</aff><aff id="aff26"><label>26</label>Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany</aff><aff id="aff27"><label>27</label>Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany</aff><aff id="aff28"><label>28</label>Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany</aff><aff id="aff29"><label>29</label>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria</aff><aff id="aff30"><label>30</label>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France</aff><aff id="aff31"><label>31</label>Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</aff><aff id="aff32"><label>32</label>Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</aff><aff id="aff33"><label>33</label>Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</aff><aff id="aff34"><label>34</label>Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France</aff><aff id="aff35"><label>35</label>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA</aff><aff id="aff36"><label>36</label>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA</aff><aff id="aff37"><label>37</label>Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA</aff><aff id="aff38"><label>38</label>Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA</aff><aff id="aff39"><label>39</label>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA</aff><aff id="aff40"><label>40</label>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</aff><aff id="aff41"><label>41</label>Department of Medicine, Harvard Medical School, Boston, MA 02115, USA</aff><aff id="aff42"><label>42</label>Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands</aff><aff id="aff43"><label>43</label>HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA</aff><aff id="aff44"><label>44</label>Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>lisenka.vissers@radboudumc.nl</email></corresp><corresp id="cor2"><label>∗∗</label>Corresponding author <email>eahn@health.southalabama.edu</email></corresp><fn id="fn1"><label>45</label><p id="ntpara0010">These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>01</day><month>9</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>18</day><month>8</month><year>2016</year></pub-date><volume>99</volume><issue>3</issue><fpage>711</fpage><lpage>719</lpage><history><date date-type="received"><day>4</day><month>5</month><year>2016</year></date><date date-type="accepted"><day>24</day><month>6</month><year>2016</year></date></history><permissions><copyright-statement>© 2016 American Society of Human Genetics.</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>American Society of Human Genetics</copyright-holder></permissions><abstract id="abs0010"><p>The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, are often lacking. Here, we report on an ID syndrome caused by de novo heterozygous loss-of-function (LoF) mutations in <italic>SON</italic>. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Knockdown of <italic>son</italic> in zebrafish resulted in severe malformation of the spine, brain, and eyes. Importantly, analyses of RNA from affected individuals revealed that genes critical for neuronal migration and cortex organization (<italic>TUBG1</italic>, <italic>FLNA</italic>, <italic>PNKP</italic>, <italic>WDR62</italic>, <italic>PSMD3</italic>, and <italic>HDAC6</italic>) and metabolism (<italic>PCK2</italic>, <italic>PFKL</italic>, <italic>IDH2</italic>, <italic>ACY1</italic>, and <italic>ADA</italic>) are significantly downregulated because of the accumulation of mis-spliced transcripts resulting from erroneous SON-mediated RNA splicing. Our data highlight SON as a master regulator governing neurodevelopment and demonstrate the importance of SON-mediated RNA splicing in human development.</p></abstract></article-meta><notes><p id="misc0010">Published: August 18, 2016</p></notes></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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