title: Copy number variation findings among 50 children and adolescents with autism spectrum disorder.
abstract: OBJECTIVE
  Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopment disorders with a complex genetic aetiology. The aim of this study was to identify copy number variations (CNVs) with a clinical significance for ASD.
  
  
  METHODS
  Array-based comparative genomic hybridization was applied to detect CNVs in a clinically well-characterized population of 50 children and adolescents with ASD.
  
  
  RESULTS
  Nine CNVs with predicted clinical significance were identified among eight individuals (detection rate 16%). Three of the CNVs are recurrently associated with ASDs (15q11.2q13.1) or have been identified in ASD populations [3p14.2 and t(8;12)(p23.1;p13.31)]. The remaining regions (15q11.2, 10q21.1, Xp22.2, 16p13.3 and 22q13.1) have not been reported previously as candidate genes for ASD.
  
  
  CONCLUSIONS
  This study identified five novel CNVs among the individuals. The causal relationship between identified CNVs and the ASD phenotype is not fully established. However, the genes involved are associated with ASD and/or other neuropsychiatric disorders, or implicated in synaptic and neuronal activity, thus suggesting clinical significance. Further identification of ASD-associated CNVs is required, together with a broad clinical characterization of affected individuals to identify genotype-phenotype correlations.
authors.affiliation: Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
authors.forename: Hanne S
authors.initials: HS
authors.lastname: Sorte
authors.forename: Elen
authors.initials: E
authors.lastname: Gjevik
authors.forename: Eili
authors.initials: E
authors.lastname: Sponheim
authors.forename: Kristin L
authors.initials: KL
authors.lastname: Eiklid
authors.forename: Olaug K
authors.initials: OK
authors.lastname: Rødningen
mesh_terms: D000293:Adolescent; D020029:Base Pairing / Q000235:genetics; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male