Ontology highlight
ABSTRACT:
SUBMITTER: O'Roak BJ
PROVIDER: S-EPMC4249945 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
O'Roak B J BJ Stessman H A HA Boyle E A EA Witherspoon K T KT Martin B B Lee C C Vives L L Baker C C Hiatt J B JB Nickerson D A DA Bernier R R Shendure J J Eichler E E EE
Nature communications 20141124
Autism spectrum disorder (ASD) has a strong but complex genetic component. Here we report on the resequencing of 64 candidate neurodevelopmental disorder risk genes in 5,979 individuals: 3,486 probands and 2,493 unaffected siblings. We find a strong burden of de novo point mutations for these genes and specifically implicate nine genes. These include CHD2 and SYNGAP1, genes previously reported in related disorders, and novel genes TRIP12 and PAX5. We also show that mutation carriers generally ha ...[more]