A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.

ABSTRACT:

Background

The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1. This gene encodes the glycine receptor α1 subunit, which has an extracellular domain (ECD) and a transmembrane domain (TMD) with 4 α-helices (TM1-TM4).

Case presentation

We investigated the genetic cause of hyperekplexia in a Chinese family with one affected member. Whole-exome sequencing of the 5 candidate genes was performed on the proband patient, and direct sequencing was performed to validate and confirm the detected mutation in other family members. We also review and analyse all reported GLRA1 mutations. The proband had a compound heterozygous GLRA1 mutation that comprised 2 novel GLRA1 missen

SUBMITTER: Yang Z 

PROVIDER: S-EPMC5631533 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature