Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

ABSTRACT: A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity. Developmental language disorders are highly heritable with substantial societal impact. Molecular studies have begun to identify candidate loci, but much of the underlying genetic architecture remains undetermined. We performed whole-exome sequencing of 43 unrelated probands affected by severe specific language impairment, followed by independent validations with Sanger sequencing, and analyses of segregation patterns in parents and siblings, to shed new light on aetiology. By first focusing on a pre-defined set of known candidates from the literature, we identified potentially pathogenic variants in genes already implicated in diverse languag

SUBMITTER: Chen XS 

PROVIDER: S-EPMC5404330 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature