A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits.

ABSTRACT:

Objective

To identify inherited or de novo mutations associated with a suite of neurodevelopmental abnormalities in a 10-year-old patient displaying ataxia, motor and speech delay, and intellectual disability.

Methods

We performed whole-exome sequencing of the proband and her parents. A pathogenic gene variant was identified as damaging based on sequence conservation, gene function, and association with disorders having similar phenotypic profiles. Functional characterization of the mutated protein was performed in vitro using a heterologous expression system.

Results

A single de novo point mutation in the GRIK2 gene was identified as causative for the neurologic symptoms of the proband. The mutation is predicted to change a codon for alanine to that of a threo

SUBMITTER: Guzman YF 

PROVIDER: S-EPMC5286855 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature