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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
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.
Afiliación
  • Stessman HA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Xiong B; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Coe BP; Department of Forensic Medicine and Institute of Brain Research, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Wang T; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Hoekzema K; State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
  • Fenckova M; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Kvarnung M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Gerdts J; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Trinh S; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Cosemans N; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Vives L; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
  • Lin J; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
  • Turner TN; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.
  • Santen G; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Ruivenkamp C; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Kriek M; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
  • Aten E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
  • Friend K; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
  • Liebelt J; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
  • Barnett C; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
  • Haan E; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • Shaw M; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Gecz J; South Australian Clinical Genetics Service, SA Pathology (at the Women's and Children's Hospital), Adelaide, South Australia, Australia.
  • Anderlid BM; South Australian Clinical Genetics Service, SA Pathology (at the Women's and Children's Hospital), Adelaide, South Australia, Australia.
  • Nordgren A; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • Lindstrand A; South Australian Clinical Genetics Service, SA Pathology (at the Women's and Children's Hospital), Adelaide, South Australia, Australia.
  • Schwartz C; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • Kooy RF; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • Vandeweyer G; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Helsmoortel C; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
  • Romano C; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Alberti A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Vinci M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Avola E; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Giusto S; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Courchesne E; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Pramparo T; Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Pierce K; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Nalabolu S; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Amaral DG; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Scheffer IE; Unit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
  • Delatycki MB; Unit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
  • Lockhart PJ; Laboratory of Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
  • Hormozdiari F; Unit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
  • Harich B; Unit of Neurology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
  • Castells-Nobau A; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA.
  • Xia K; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA.
  • Peeters H; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA.
  • Nordenskjöld M; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA.
Nat Genet ; 49(4): 515-526, 2017 Apr.
Article en En | MEDLINE | ID: mdl-28191889
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Discapacidades del Desarrollo / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Discapacidades del Desarrollo / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos