Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.

ABSTRACT: Although numerous genetic studies have been conducted for bipolar disorder (BD), its genetic architecture remains elusive. Here we perform, to the best of our knowledge, the first trio-based exome sequencing study for BD to investigate potential roles of de novo mutations in the disease etiology. We identified 71 de novo point mutations and one de novo copy-number mutation in 79 BD probands. Among the genes hit by de novo loss-of-function (LOF; nonsense, splice site or frameshift) or protein-altering (LOF, missense and inframe indel) mutations, we found significant enrichment of genes highly intolerant (first percentile of intolerant genes assessed by Residual Variation Intolerance Score) to protein-altering variants in general population, an observation that is also reported in autism and

SUBMITTER: Kataoka M 

PROVIDER: S-EPMC5414074 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature