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https://ahro.austin.org.au/austinjspui/handle/1/19302| 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: | Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA Department of Biochemistry and Molecular Medicine, University of California, Davis, Davis, California, USA Howard Hughes Medical Institute, Seattle, Washington, USA Victorian Clinical Genetics Services, Parkville, Victoria, Australia 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 Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, 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 Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands 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 |
Issue Date: | Apr-2017 | Date: | 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. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/19302 | DOI: | 10.1038/ng.3792 | ORCID: | 0000-0002-0764-3493 0000-0003-2531-8413 0000-0002-2311-2174 0000-0002-7884-6861 0000-0003-2024-0485 0000-0003-1049-0683 |
Journal: | Nature genetics | PubMed URL: | 28191889 | Type: | Journal Article |
| Appears in Collections: | Journal articles |
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