Article
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
Nature genetics - 1 Jun 2011
O'Roak Brian J, Deriziotis Pelagia, Lee Choli, Vives Laura, Schwartz Jerrod J, Girirajan Santhosh, Karakoc Emre, Mackenzie Alexandra P, Ng Sarah B, Baker Carl, Rieder Mark J, Nickerson Deborah A, Bernier Raphael, Fisher Simon E, Shendure Jay, Eichler Evan E
Abstract excerpt
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated by substantial locus heterogeneity. We sequenced the exomes of 20 individuals with sporadic ASD (cases) and their parents, reasoning that these families would be enriched for de novo mutations of major effect. We identified 21 de novo mutations, 11 of which were protein altering....
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