Mutations in HECW2 are associated with intellectual disability and epilepsy.

ABSTRACT:

Background

De novo mutations are a frequent cause of disorders related to brain development. We report the results of screening patients diagnosed with both epilepsy and intellectual disability (ID) using exome sequencing to identify known and new causative de novo mutations relevant to these conditions.

Methods

Exome sequencing was performed on 39 patient-parent trios to identify de novo mutations. Clinical significance of de novo mutations in genes was determined using the American College of Medical Genetics and Genomics standard guidelines for interpretation of coding variants. Variants in genes of unknown clinical significance were further analysed in the context of previous trio sequencing efforts in neurodevelopmental disorders.

Results

In 39 patient-parent tri

SUBMITTER: Halvardson J 

PROVIDER: S-EPMC5099177 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature