Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

ABSTRACT:

Objective

To expand the clinical phenotype associated with STXBP1 gene mutations and to understand the effect of STXBP1 mutations in the pathogenesis of focal cortical dysplasia (FCD).

Methods

Patients with STXBP1 mutations were identified in various ways: as part of a retrospective cohort study of epileptic encephalopathy; through clinical referrals of individuals (10,619) with developmental delay (DD) for chromosomal microarray; and from a collection of 5,205 individuals with autism spectrum disorder (ASD) examined by whole-genome sequencing.

Results

Seven patients with heterozygous de novo mutations affecting the coding region of STXBP1 were newly identified. Three cases had radiologic evidence suggestive of FCD. One male patient with ea

SUBMITTER: Uddin M 

PROVIDER: S-EPMC5735305 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature