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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.
D'Abate, L; Walker, S; Yuen, R K C; Tammimies, K; Buchanan, J A; Davies, R W; Thiruvahindrapuram, B; Wei, J; Brian, J; Bryson, S E; Dobkins, K; Howe, J; Landa, R; Leef, J; Messinger, D; Ozonoff, S; Smith, I M; Stone, W L; Warren, Z E; Young, G; Zwaigenbaum, L; Scherer, S W.
Afiliação
  • D'Abate L; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Walker S; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Yuen RKC; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Tammimies K; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Buchanan JA; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Davies RW; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Thiruvahindrapuram B; Center of Neurodevelopmental Disorders at Karolinska Institutet (KIND), Department of Women's and Children's Health, Stockholm, Sweden.
  • Wei J; Center for Psychiatry Research, Region Stockholm, Stockholm, Sweden.
  • Brian J; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Bryson SE; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Dobkins K; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Howe J; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Landa R; Autism Research Centre, Bloorview Research Institute and University of Toronto, Toronto, ON, Canada.
  • Leef J; Autism Research Centre, IWK Health Centre and Dalhousie University, Halifax, NS, Canada.
  • Messinger D; Department of Psychology, UC San Diego, La Jolla, CA, USA.
  • Ozonoff S; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Smith IM; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Stone WL; Autism Research Centre, Bloorview Research Institute and University of Toronto, Toronto, ON, Canada.
  • Warren ZE; Department of Psychology, University of Miami, Coral Gables, FL, USA.
  • Young G; MIND Institute, Department of Psychiatry, UC Davis, Davis, CA, USA.
  • Zwaigenbaum L; Autism Research Centre, IWK Health Centre and Dalhousie University, Halifax, NS, Canada.
  • Scherer SW; Department of Psychology, University of Washington, Seattle, WA, USA.
Nat Commun ; 10(1): 5519, 2019 12 05.
Article em En | MEDLINE | ID: mdl-31801954
ABSTRACT
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Predisposição Genética para Doença / Genômica / Irmãos / Variações do Número de Cópias de DNA / Transtorno do Espectro Autista Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Predisposição Genética para Doença / Genômica / Irmãos / Variações do Número de Cópias de DNA / Transtorno do Espectro Autista Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article