Ontology highlight
ABSTRACT:
SUBMITTER: D'Gama AM
PROVIDER: S-EPMC4672379 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
D'Gama Alissa M AM Pochareddy Sirisha S Li Mingfeng M Jamuar Saumya S SS Reiff Rachel E RE Lam Anh-Thu N AN Sestan Nenad N Walsh Christopher A CA
Neuron 20151201 5
Single nucleotide variants (SNVs), particularly loss-of-function mutations, are significant contributors to autism spectrum disorder (ASD) risk. Here we report the first systematic deep sequencing study of 55 postmortem ASD brains for SNVs in 78 known ASD candidate genes. Remarkably, even without parental samples, we find more ASD brains with mutations that are protein-altering (26/55 cases versus 12/50 controls, p = 0.015), deleterious (16/55 versus 5/50, p = 0.016), or loss-of-function (6/55 v ...[more]