Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

ABSTRACT: Background:We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to better understand the prevalence, inheritance, and genotype-phenotype correlations of likely gene-disrupting (LGD) mutations for autism candidate genes originally identified in cohorts of European descent. Methods:We sequenced 187 autism candidate genes in an additional 784 probands and 85 genes in 599 probands using single-molecule molecular inversion probes. We tested the inheritance of potentially pathogenic mutations, performed a meta-analysis of phase I and phase II data and combined our results with existing exome sequence data to investigate the

SUBMITTER: Guo H 

PROVIDER: S-EPMC6293633 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature