De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Identifieur interne : 001959 ( PubMed/Corpus ); précédent : 001958; suivant : 001960De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Auteurs : Jung-Hyun Kim ; Deepali N. Shinde ; Margot R F. Reijnders ; Natalie S. Hauser ; Rebecca L. Belmonte ; Gregory R. Wilson ; Daniëlle G M. Bosch ; Paula A. Bubulya ; Vandana Shashi ; Slavé Petrovski ; Joshua K. Stone ; Eun Young Park ; Joris A. Veltman ; Margje Sinnema ; Connie T R M. Stumpel ; Jos M. Draaisma ; Joost Nicolai ; Helger G. Yntema ; Kristin Lindstrom ; Bert B A. De Vries ; Tamison Jewett ; Stephanie L. Santoro ; Julie Vogt ; Kristine K. Bachman ; Andrea H. Seeley ; Alyson Krokosky ; Clesson Turner ; Luis Rohena ; Maja Hempel ; Fanny Kortüm ; Davor Lessel ; Axel Neu ; Tim M. Strom ; Dagmar Wieczorek ; Nuria Bramswig ; Franco A. Laccone ; Jana Behunova ; Helga Rehder ; Christopher T. Gordon ; Marlène Rio ; Serge Romana ; Sha Tang ; Dima El-Khechen ; Megan T. Cho ; Kirsty Mcwalter ; Ganka Douglas ; Berivan Baskin ; Amber Begtrup ; Tara Funari ; Kelly Schoch ; Alexander P A. Stegmann ; Servi J C. Stevens ; Dong-Er Zhang ; David Traver ; Xu Yao ; Daniel G. Macarthur ; Han G. Brunner ; Grazia M. Mancini ; Richard M. Myers ; Laurie B. Owen ; Ssang-Taek Lim ; David L. Stachura ; Lisenka E L M. Vissers ; Eun-Young Erin AhnSource :
- American journal of human genetics [ 1537-6605 ] ; 2016.
English descriptors
- KwdEn :
- Animals, Brain (abnormalities), Brain (embryology), Brain (metabolism), Brain (pathology), DNA-Binding Proteins (analysis), DNA-Binding Proteins (genetics), DNA-Binding Proteins (metabolism), Developmental Disabilities (genetics), Developmental Disabilities (pathology), Developmental Disabilities (physiopathology), Eye Abnormalities (genetics), Female, Genes, Essential (genetics), Haploinsufficiency (genetics), Head (abnormalities), Heterozygote, Humans, Intellectual Disability (genetics), Intellectual Disability (pathology), Intellectual Disability (physiopathology), Male, Metabolic Diseases (genetics), Metabolic Diseases (metabolism), Minor Histocompatibility Antigens (analysis), Minor Histocompatibility Antigens (genetics), Minor Histocompatibility Antigens (metabolism), Mutation (genetics), Pedigree, RNA Splicing (genetics), RNA, Messenger (analysis), Spine (abnormalities), Syndrome, Zebrafish (abnormalities), Zebrafish (embryology), Zebrafish (genetics).
- MESH :
- chemical , analysis : DNA-Binding Proteins, Minor Histocompatibility Antigens, RNA, Messenger.
- abnormalities : Brain, Head, Spine, Zebrafish.
- embryology : Brain, Zebrafish.
- chemical , genetics : DNA-Binding Proteins, Developmental Disabilities, Eye Abnormalities, Genes, Essential, Haploinsufficiency, Intellectual Disability, Metabolic Diseases, Minor Histocompatibility Antigens, Mutation, RNA Splicing, Zebrafish.
- metabolism : Brain, DNA-Binding Proteins, Metabolic Diseases, Minor Histocompatibility Antigens.
- pathology : Brain, Developmental Disabilities, Intellectual Disability.
- physiopathology : Developmental Disabilities, Intellectual Disability.
- Animals, Female, Heterozygote, Humans, Male, Pedigree, Syndrome.
Abstract
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 SON. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Knockdown of son 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 (TUBG1, FLNA, PNKP, WDR62, PSMD3, and HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA) 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.
DOI: 10.1016/j.ajhg.2016.06.029
PubMed: 27545680
Links to Exploration step
pubmed:27545680Le document en format XML
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Reijnders</name><affiliation><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></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:affiliation>Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA 93636, USA.</nlm:affiliation></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:affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</nlm:affiliation></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:affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></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:affiliation>Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Shashi, Vandana" sort="Shashi, Vandana" uniqKey="Shashi V" first="Vandana" last="Shashi">Vandana Shashi</name><affiliation><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Petrovski, Slave" sort="Petrovski, Slave" uniqKey="Petrovski S" first="Slavé" last="Petrovski">Slavé Petrovski</name><affiliation><nlm:affiliation>Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia; Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA.</nlm:affiliation></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:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation></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:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><affiliation><nlm:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Department of Pediatrics, Radboudumc Amalia Children's Hospital, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Nicolai, Joost" sort="Nicolai, Joost" uniqKey="Nicolai J" first="Joost" last="Nicolai">Joost Nicolai</name><affiliation><nlm:affiliation>Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Lindstrom, Kristin" sort="Lindstrom, Kristin" uniqKey="Lindstrom K" first="Kristin" last="Lindstrom">Kristin Lindstrom</name><affiliation><nlm:affiliation>Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Jewett, Tamison" sort="Jewett, Tamison" uniqKey="Jewett T" first="Tamison" last="Jewett">Tamison Jewett</name><affiliation><nlm:affiliation>Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.</nlm:affiliation></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:affiliation>Nationwide Children's Hospital, Columbus, OH 43205, USA; Ohio State University College of Medicine, Columbus, OH 43210, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG, UK.</nlm:affiliation></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:affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</nlm:affiliation></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:affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Krokosky, Alyson" sort="Krokosky, Alyson" uniqKey="Krokosky A" first="Alyson" last="Krokosky">Alyson Krokosky</name><affiliation><nlm:affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Turner, Clesson" sort="Turner, Clesson" uniqKey="Turner C" first="Clesson" last="Turner">Clesson Turner</name><affiliation><nlm:affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Rohena, Luis" sort="Rohena, Luis" uniqKey="Rohena L" first="Luis" last="Rohena">Luis Rohena</name><affiliation><nlm:affiliation>Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Hempel, Maja" sort="Hempel, Maja" uniqKey="Hempel M" first="Maja" last="Hempel">Maja Hempel</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Kortum, Fanny" sort="Kortum, Fanny" uniqKey="Kortum F" first="Fanny" last="Kortüm">Fanny Kortüm</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Lessel, Davor" sort="Lessel, Davor" uniqKey="Lessel D" first="Davor" last="Lessel">Davor Lessel</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Neu, Axel" sort="Neu, Axel" uniqKey="Neu A" first="Axel" last="Neu">Axel Neu</name><affiliation><nlm:affiliation>Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation></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:affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Bramswig, Nuria" sort="Bramswig, Nuria" uniqKey="Bramswig N" first="Nuria" last="Bramswig">Nuria Bramswig</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</nlm:affiliation></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:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation></affiliation></author><author><name sortKey="Behunova, Jana" sort="Behunova, Jana" uniqKey="Behunova J" first="Jana" last="Behunova">Jana Behunova</name><affiliation><nlm:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation></affiliation></author><author><name sortKey="Rehder, Helga" sort="Rehder, Helga" uniqKey="Rehder H" first="Helga" last="Rehder">Helga Rehder</name><affiliation><nlm:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation></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:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name><affiliation><nlm:affiliation>Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Romana, Serge" sort="Romana, Serge" uniqKey="Romana S" first="Serge" last="Romana">Serge Romana</name><affiliation><nlm:affiliation>Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name><affiliation><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation></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:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation></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:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Mcwalter, Kirsty" sort="Mcwalter, Kirsty" uniqKey="Mcwalter K" first="Kirsty" last="Mcwalter">Kirsty Mcwalter</name><affiliation><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Douglas, Ganka" sort="Douglas, Ganka" uniqKey="Douglas G" first="Ganka" last="Douglas">Ganka Douglas</name><affiliation><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Baskin, Berivan" sort="Baskin, Berivan" uniqKey="Baskin B" first="Berivan" last="Baskin">Berivan Baskin</name><affiliation><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Begtrup, Amber" sort="Begtrup, Amber" uniqKey="Begtrup A" first="Amber" last="Begtrup">Amber Begtrup</name><affiliation><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Funari, Tara" sort="Funari, Tara" uniqKey="Funari T" first="Tara" last="Funari">Tara Funari</name><affiliation><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Schoch, Kelly" sort="Schoch, Kelly" uniqKey="Schoch K" first="Kelly" last="Schoch">Kelly Schoch</name><affiliation><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</nlm:affiliation></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:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Traver, David" sort="Traver, David" uniqKey="Traver D" first="David" last="Traver">David Traver</name><affiliation><nlm:affiliation>Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Yao, Xu" sort="Yao, Xu" uniqKey="Yao X" first="Xu" last="Yao">Xu Yao</name><affiliation><nlm:affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation></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:affiliation>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.</nlm:affiliation></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:affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.</nlm:affiliation></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:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation></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:affiliation>Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA.</nlm:affiliation></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:affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.</nlm:affiliation></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:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address: eahn@health.southalabama.edu.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27545680</idno><idno type="pmid">27545680</idno><idno type="doi">10.1016/j.ajhg.2016.06.029</idno><idno type="wicri:Area/PubMed/Corpus">001959</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001959</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">De Novo Mutations in SON 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:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation></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:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></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:affiliation>Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA 93636, USA.</nlm:affiliation></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:affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</nlm:affiliation></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:affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></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:affiliation>Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Shashi, Vandana" sort="Shashi, Vandana" uniqKey="Shashi V" first="Vandana" last="Shashi">Vandana Shashi</name><affiliation><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Petrovski, Slave" sort="Petrovski, Slave" uniqKey="Petrovski S" first="Slavé" last="Petrovski">Slavé Petrovski</name><affiliation><nlm:affiliation>Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia; Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA.</nlm:affiliation></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:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation></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:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><affiliation><nlm:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Department of Pediatrics, Radboudumc Amalia Children's Hospital, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Nicolai, Joost" sort="Nicolai, Joost" uniqKey="Nicolai J" first="Joost" last="Nicolai">Joost Nicolai</name><affiliation><nlm:affiliation>Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Lindstrom, Kristin" sort="Lindstrom, Kristin" uniqKey="Lindstrom K" first="Kristin" last="Lindstrom">Kristin Lindstrom</name><affiliation><nlm:affiliation>Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Jewett, Tamison" sort="Jewett, Tamison" uniqKey="Jewett T" first="Tamison" last="Jewett">Tamison Jewett</name><affiliation><nlm:affiliation>Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.</nlm:affiliation></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:affiliation>Nationwide Children's Hospital, Columbus, OH 43205, USA; Ohio State University College of Medicine, Columbus, OH 43210, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG, UK.</nlm:affiliation></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:affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</nlm:affiliation></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:affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Krokosky, Alyson" sort="Krokosky, Alyson" uniqKey="Krokosky A" first="Alyson" last="Krokosky">Alyson Krokosky</name><affiliation><nlm:affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Turner, Clesson" sort="Turner, Clesson" uniqKey="Turner C" first="Clesson" last="Turner">Clesson Turner</name><affiliation><nlm:affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Rohena, Luis" sort="Rohena, Luis" uniqKey="Rohena L" first="Luis" last="Rohena">Luis Rohena</name><affiliation><nlm:affiliation>Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Hempel, Maja" sort="Hempel, Maja" uniqKey="Hempel M" first="Maja" last="Hempel">Maja Hempel</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Kortum, Fanny" sort="Kortum, Fanny" uniqKey="Kortum F" first="Fanny" last="Kortüm">Fanny Kortüm</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Lessel, Davor" sort="Lessel, Davor" uniqKey="Lessel D" first="Davor" last="Lessel">Davor Lessel</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Neu, Axel" sort="Neu, Axel" uniqKey="Neu A" first="Axel" last="Neu">Axel Neu</name><affiliation><nlm:affiliation>Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation></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:affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Bramswig, Nuria" sort="Bramswig, Nuria" uniqKey="Bramswig N" first="Nuria" last="Bramswig">Nuria Bramswig</name><affiliation><nlm:affiliation>Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</nlm:affiliation></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:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation></affiliation></author><author><name sortKey="Behunova, Jana" sort="Behunova, Jana" uniqKey="Behunova J" first="Jana" last="Behunova">Jana Behunova</name><affiliation><nlm:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation></affiliation></author><author><name sortKey="Rehder, Helga" sort="Rehder, Helga" uniqKey="Rehder H" first="Helga" last="Rehder">Helga Rehder</name><affiliation><nlm:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation></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:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name><affiliation><nlm:affiliation>Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Romana, Serge" sort="Romana, Serge" uniqKey="Romana S" first="Serge" last="Romana">Serge Romana</name><affiliation><nlm:affiliation>Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name><affiliation><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation></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:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation></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:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Mcwalter, Kirsty" sort="Mcwalter, Kirsty" uniqKey="Mcwalter K" first="Kirsty" last="Mcwalter">Kirsty Mcwalter</name><affiliation><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Douglas, Ganka" sort="Douglas, Ganka" uniqKey="Douglas G" first="Ganka" last="Douglas">Ganka Douglas</name><affiliation><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Baskin, Berivan" sort="Baskin, Berivan" uniqKey="Baskin B" first="Berivan" last="Baskin">Berivan Baskin</name><affiliation><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Begtrup, Amber" sort="Begtrup, Amber" uniqKey="Begtrup A" first="Amber" last="Begtrup">Amber Begtrup</name><affiliation><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Funari, Tara" sort="Funari, Tara" uniqKey="Funari T" first="Tara" last="Funari">Tara Funari</name><affiliation><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Schoch, Kelly" sort="Schoch, Kelly" uniqKey="Schoch K" first="Kelly" last="Schoch">Kelly Schoch</name><affiliation><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</nlm:affiliation></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:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Traver, David" sort="Traver, David" uniqKey="Traver D" first="David" last="Traver">David Traver</name><affiliation><nlm:affiliation>Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Yao, Xu" sort="Yao, Xu" uniqKey="Yao X" first="Xu" last="Yao">Xu Yao</name><affiliation><nlm:affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation></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:affiliation>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation></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:affiliation>Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.</nlm:affiliation></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:affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.</nlm:affiliation></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:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation></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:affiliation>Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA.</nlm:affiliation></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:affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</nlm:affiliation></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:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.</nlm:affiliation></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:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address: eahn@health.southalabama.edu.</nlm:affiliation></affiliation></author></analytic><series><title level="j">American journal of human genetics</title><idno type="eISSN">1537-6605</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Brain (abnormalities)</term><term>Brain (embryology)</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>DNA-Binding Proteins (analysis)</term><term>DNA-Binding Proteins (genetics)</term><term>DNA-Binding Proteins (metabolism)</term><term>Developmental Disabilities (genetics)</term><term>Developmental Disabilities (pathology)</term><term>Developmental Disabilities (physiopathology)</term><term>Eye Abnormalities (genetics)</term><term>Female</term><term>Genes, Essential (genetics)</term><term>Haploinsufficiency (genetics)</term><term>Head (abnormalities)</term><term>Heterozygote</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Intellectual Disability (pathology)</term><term>Intellectual Disability (physiopathology)</term><term>Male</term><term>Metabolic Diseases (genetics)</term><term>Metabolic Diseases (metabolism)</term><term>Minor Histocompatibility Antigens (analysis)</term><term>Minor Histocompatibility Antigens (genetics)</term><term>Minor Histocompatibility Antigens (metabolism)</term><term>Mutation (genetics)</term><term>Pedigree</term><term>RNA Splicing (genetics)</term><term>RNA, Messenger (analysis)</term><term>Spine (abnormalities)</term><term>Syndrome</term><term>Zebrafish (abnormalities)</term><term>Zebrafish (embryology)</term><term>Zebrafish (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>DNA-Binding Proteins</term><term>Minor Histocompatibility Antigens</term><term>RNA, Messenger</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Brain</term><term>Head</term><term>Spine</term><term>Zebrafish</term></keywords><keywords scheme="MESH" qualifier="embryology" xml:lang="en"><term>Brain</term><term>Zebrafish</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term><term>Developmental Disabilities</term><term>Eye Abnormalities</term><term>Genes, Essential</term><term>Haploinsufficiency</term><term>Intellectual Disability</term><term>Metabolic Diseases</term><term>Minor Histocompatibility Antigens</term><term>Mutation</term><term>RNA Splicing</term><term>Zebrafish</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>DNA-Binding Proteins</term><term>Metabolic Diseases</term><term>Minor Histocompatibility Antigens</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Developmental Disabilities</term><term>Intellectual Disability</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Developmental Disabilities</term><term>Intellectual Disability</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 SON. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Knockdown of son 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 (TUBG1, FLNA, PNKP, WDR62, PSMD3, and HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA) 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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27545680</PMID><DateCreated><Year>2016</Year><Month>09</Month><Day>03</Day></DateCreated><DateCompleted><Year>2017</Year><Month>05</Month><Day>02</Day></DateCompleted><DateRevised><Year>2017</Year><Month>10</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN><JournalIssue CitedMedium="Internet"><Volume>99</Volume><Issue>3</Issue><PubDate><Year>2016</Year><Month>09</Month><Day>01</Day></PubDate></JournalIssue><Title>American journal of human genetics</Title><ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.</ArticleTitle><Pagination><MedlinePgn>711-719</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S0002-9297(16)30267-1</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2016.06.029</ELocationID><Abstract><AbstractText>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 SON. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Knockdown of son 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 (TUBG1, FLNA, PNKP, WDR62, PSMD3, and HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA) 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.</AbstractText><CopyrightInformation>Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Jung-Hyun</ForeName><Initials>JH</Initials><AffiliationInfo><Affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shinde</LastName><ForeName>Deepali N</ForeName><Initials>DN</Initials><AffiliationInfo><Affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reijnders</LastName><ForeName>Margot R F</ForeName><Initials>MRF</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hauser</LastName><ForeName>Natalie S</ForeName><Initials>NS</Initials><AffiliationInfo><Affiliation>Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA 93636, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Belmonte</LastName><ForeName>Rebecca L</ForeName><Initials>RL</Initials><AffiliationInfo><Affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wilson</LastName><ForeName>Gregory R</ForeName><Initials>GR</Initials><AffiliationInfo><Affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bosch</LastName><ForeName>Daniëlle G M</ForeName><Initials>DGM</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bubulya</LastName><ForeName>Paula A</ForeName><Initials>PA</Initials><AffiliationInfo><Affiliation>Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shashi</LastName><ForeName>Vandana</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Petrovski</LastName><ForeName>Slavé</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia; Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stone</LastName><ForeName>Joshua K</ForeName><Initials>JK</Initials><AffiliationInfo><Affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Park</LastName><ForeName>Eun Young</ForeName><Initials>EY</Initials><AffiliationInfo><Affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Veltman</LastName><ForeName>Joris A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sinnema</LastName><ForeName>Margje</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stumpel</LastName><ForeName>Connie T R M</ForeName><Initials>CTRM</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Draaisma</LastName><ForeName>Jos M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Radboudumc Amalia Children's Hospital, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nicolai</LastName><ForeName>Joost</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>University of Washington Center for Mendelian Genomics</CollectiveName></Author><Author ValidYN="Y"><LastName>Yntema</LastName><ForeName>Helger G</ForeName><Initials>HG</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lindstrom</LastName><ForeName>Kristin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Vries</LastName><ForeName>Bert B A</ForeName><Initials>BBA</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jewett</LastName><ForeName>Tamison</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Santoro</LastName><ForeName>Stephanie L</ForeName><Initials>SL</Initials><AffiliationInfo><Affiliation>Nationwide Children's Hospital, Columbus, OH 43205, USA; Ohio State University College of Medicine, Columbus, OH 43210, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vogt</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>Deciphering Developmental Disorders Study</CollectiveName><AffiliationInfo><Affiliation>Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bachman</LastName><ForeName>Kristine K</ForeName><Initials>KK</Initials><AffiliationInfo><Affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Seeley</LastName><ForeName>Andrea H</ForeName><Initials>AH</Initials><AffiliationInfo><Affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Krokosky</LastName><ForeName>Alyson</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Turner</LastName><ForeName>Clesson</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rohena</LastName><ForeName>Luis</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hempel</LastName><ForeName>Maja</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kortüm</LastName><ForeName>Fanny</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lessel</LastName><ForeName>Davor</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Neu</LastName><ForeName>Axel</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Strom</LastName><ForeName>Tim M</ForeName><Initials>TM</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wieczorek</LastName><ForeName>Dagmar</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bramswig</LastName><ForeName>Nuria</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Laccone</LastName><ForeName>Franco A</ForeName><Initials>FA</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Behunova</LastName><ForeName>Jana</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rehder</LastName><ForeName>Helga</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gordon</LastName><ForeName>Christopher T</ForeName><Initials>CT</Initials><AffiliationInfo><Affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rio</LastName><ForeName>Marlène</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Romana</LastName><ForeName>Serge</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tang</LastName><ForeName>Sha</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>El-Khechen</LastName><ForeName>Dima</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cho</LastName><ForeName>Megan T</ForeName><Initials>MT</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McWalter</LastName><ForeName>Kirsty</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Douglas</LastName><ForeName>Ganka</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baskin</LastName><ForeName>Berivan</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Begtrup</LastName><ForeName>Amber</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Funari</LastName><ForeName>Tara</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schoch</LastName><ForeName>Kelly</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stegmann</LastName><ForeName>Alexander P A</ForeName><Initials>APA</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stevens</LastName><ForeName>Servi J C</ForeName><Initials>SJC</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Dong-Er</ForeName><Initials>DE</Initials><AffiliationInfo><Affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Traver</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yao</LastName><ForeName>Xu</ForeName><Initials>X</Initials><AffiliationInfo><Affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>MacArthur</LastName><ForeName>Daniel G</ForeName><Initials>DG</Initials><AffiliationInfo><Affiliation>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brunner</LastName><ForeName>Han G</ForeName><Initials>HG</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mancini</LastName><ForeName>Grazia M</ForeName><Initials>GM</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Myers</LastName><ForeName>Richard M</ForeName><Initials>RM</Initials><AffiliationInfo><Affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Owen</LastName><ForeName>Laurie B</ForeName><Initials>LB</Initials><AffiliationInfo><Affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lim</LastName><ForeName>Ssang-Taek</ForeName><Initials>ST</Initials><AffiliationInfo><Affiliation>Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stachura</LastName><ForeName>David L</ForeName><Initials>DL</Initials><AffiliationInfo><Affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vissers</LastName><ForeName>Lisenka E L M</ForeName><Initials>LELM</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ahn</LastName><ForeName>Eun-Young Erin</ForeName><Initials>EYE</Initials><AffiliationInfo><Affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address: eahn@health.southalabama.edu.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>U54 HG006493</GrantID><Acronym>HG</Acronym><Agency>NHGRI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R21 CA185818</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R15 GM084407</GrantID><Acronym>GM</Acronym><Agency>NIGMS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 CA190688</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>UM1 HG006493</GrantID><Acronym>HG</Acronym><Agency>NHGRI NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>08</Month><Day>18</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Hum Genet</MedlineTA><NlmUniqueID>0370475</NlmUniqueID><ISSNLinking>0002-9297</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D004268">DNA-Binding Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D015778">Minor Histocompatibility Antigens</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D012333">RNA, Messenger</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C088203">SON protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>PLoS Genet. 2013;9(8):e1003709</RefSource><PMID Version="1">23990802</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Cell Biol. 2013 Oct;15(10 ):1141-52</RefSource><PMID Version="1">24013217</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2010 Nov;42(11):1015-20</RefSource><PMID Version="1">20890278</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2014 Jul 17;511(7509):344-7</RefSource><PMID Version="1">24896178</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuron. 1998 Dec;21(6):1315-25</RefSource><PMID Version="1">9883725</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2010 Mar;42(3):245-9</RefSource><PMID Version="1">20118933</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2014 Aug;46(8):818-25</RefSource><PMID Version="1">24974849</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet. 2012 Nov 10;380(9854):1674-82</RefSource><PMID Version="1">23020937</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genet Med. 2015 Oct;17(10):774-81</RefSource><PMID Version="1">25590979</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Hum Genet. 2007 Jan;15(1):68-75</RefSource><PMID Version="1">16969374</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2014 Nov 13;515(7526):216-21</RefSource><PMID Version="1">25363768</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2012 Dec;44(12):1365-9</RefSource><PMID Version="1">23042115</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pediatr Neurol. 2007 Sep;37(3):218-21</RefSource><PMID Version="1">17765813</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Neurosci. 2016 Sep;19(9):1194-6</RefSource><PMID Version="1">27479843</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Cell Sci. 2011 Dec 15;124(Pt 24):4286-98</RefSource><PMID Version="1">22193954</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Annu Rev Genomics Hum Genet. 2010;11:161-87</RefSource><PMID Version="1">20822471</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2010 Dec;42(12):1109-12</RefSource><PMID Version="1">21076407</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2014 Apr 24;508(7497):469-76</RefSource><PMID Version="1">24759409</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2012 Nov 15;367(20):1921-9</RefSource><PMID Version="1">23033978</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Cell Biochem. 2014 Feb;115(2):224-31</RefSource><PMID Version="1">24030980</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2016 Aug 17;536(7616):285-91</RefSource><PMID Version="1">27535533</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Biol Cell. 2010 Feb 15;21(4):650-63</RefSource><PMID Version="1">20053686</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2013 Feb 22;288(8):5381-8</RefSource><PMID Version="1">23322776</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2010 Nov;42(11):1010-4</RefSource><PMID Version="1">20890279</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS Genet. 2015 Sep 02;11(9):e1005492</RefSource><PMID Version="1">26332131</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2010 Sep 9;467(7312):207-10</RefSource><PMID Version="1">20729831</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cell. 2013 Aug 1;154(3):518-29</RefSource><PMID Version="1">23911319</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Cell. 2016 Mar 17;61(6):859-73</RefSource><PMID Version="1">26990989</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2015 Mar 12;519(7542):223-8</RefSource><PMID Version="1">25533962</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2014 Aug 21;371(8):733-43</RefSource><PMID Version="1">25140959</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2012 Feb 23;366(8):733-43</RefSource><PMID Version="1">22356326</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Rev Genet. 2016 Jan;17(1):9-18</RefSource><PMID Version="1">26503795</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Cell. 2011 Apr 22;42(2):185-98</RefSource><PMID Version="1">21504830</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2013 Jun;45(6):639-47</RefSource><PMID Version="1">23603762</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Commun. 2014 May 30;5:3885</RefSource><PMID Version="1">24875059</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000818" MajorTopicYN="N">Animals</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001921" MajorTopicYN="N">Brain</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName><QualifierName UI="Q000196" MajorTopicYN="Y">embryology</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004268" MajorTopicYN="N">DNA-Binding Proteins</DescriptorName><QualifierName UI="Q000032" MajorTopicYN="N">analysis</QualifierName><QualifierName UI="Q000235" 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