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Title: Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Austin Authors: Stessman, Holly A F;Xiong, Bo;Coe, Bradley P;Wang, Tianyun;Hoekzema, Kendra;Fenckova, Michaela;Kvarnung, Malin;Gerdts, Jennifer;Trinh, Sandy;Cosemans, Nele;Vives, Laura;Lin, Janice;Turner, Tychele N;Santen, Gijs;Ruivenkamp, Claudia;Kriek, Marjolein;van Haeringen, Arie;Aten, Emmelien;Friend, Kathryn;Liebelt, Jan;Barnett, Christopher;Haan, Eric;Shaw, Marie;Gecz, Jozef;Anderlid, Britt-Marie;Nordgren, Ann;Lindstrand, Anna;Schwartz, Charles;Kooy, R Frank;Vandeweyer, Geert;Helsmoortel, Celine;Romano, Corrado;Alberti, Antonino;Vinci, Mirella;Avola, Emanuela;Giusto, Stefania;Courchesne, Eric;Pramparo, Tiziano;Pierce, Karen;Nalabolu, Srinivasa;Amaral, David G;Scheffer, Ingrid E ;Delatycki, Martin B ;Lockhart, Paul J;Hormozdiari, Fereydoun;Harich, Benjamin;Castells-Nobau, Anna;Xia, Kun;Peeters, Hilde;Nordenskjöld, Magnus;Schenck, Annette;Bernier, Raphael A;Eichler, Evan E
Affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA
Howard Hughes Medical Institute, Seattle, Washington, USA
Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands
Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China
Department of Genome Sciences, University of Washington, Seattle, Washington, USA
Department of Biochemistry and Molecular Medicine, University of California, Davis, Davis, California, USA
Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA
MIND Institute and the University of California Davis School of Medicine, Sacramento, California, USA
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Forensic Medicine and Institute of Brain Research, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium
Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands
School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia
Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia
South Australian Clinical Genetics Service, SA Pathology (at the Women's and Children's Hospital), Adelaide, South Australia, Australia
South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Unit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy
Laboratory of Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy
Unit of Neurology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia
Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia
Victorian Clinical Genetics Services, Parkville, Victoria, Australia
Issue Date: Apr-2017 2017-02-13
Publication information: Nature genetics 2017; 49(4): 515-526
Abstract: Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
DOI: 10.1038/ng.3792
ORCID: 0000-0003-2531-8413
PubMed URL: 28191889
Type: Journal Article
Appears in Collections:Journal articles

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