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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

TitleOligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
Publication TypeJournal Article
Year of Publication2011
AuthorsSchaaf, Christian P., Sabo Aniko, Sakai Yasunari, Crosby Jacy, Muzny Donna, Hawes Alicia, Lewis Lora, Akbar Humeira, Varghese Robin, Boerwinkle Eric, Gibbs Richard A., and Zoghbi Huda Y.
JournalHuman molecular genetics
Date Published2011 Sep 1
KeywordsAdolescent, Child, Child Development Disorders, Pervasive, Child, Preschool, Genetic Predisposition to Disease, Heterozygote, Humans, Male, Mutation
AbstractAutism spectrum disorders (ASDs) are a heterogeneous group of neuro-developmental disorders. While significant progress has been made in the identification of genes and copy number variants associated with syndromic autism, little is known to date about the etiology of idiopathic non-syndromic autism. Sanger sequencing of 21 known autism susceptibility genes in 339 individuals with high-functioning, idiopathic ASD revealed de novo mutations in at least one of these genes in 6 of 339 probands (1.8%). Additionally, multiple events of oligogenic heterozygosity were seen, affecting 23 of 339 probands (6.8%). Screening of a control population for novel coding variants in CACNA1C, CDKL5, HOXA1, SHANK3, TSC1, TSC2 and UBE3A by the same sequencing technology revealed that controls were carriers of oligogenic heterozygous events at significantly (P < 0.01) lower rate, suggesting oligogenic heterozygosity as a new potential mechanism in the pathogenesis of ASDs.
Alternate JournalHum. Mol. Genet.

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