GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.

ABSTRACT:

Background

A substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent.

Objective

To identify the causative gene mutation in a five-generation Chinese family with an X-linked recessive syndromic hearing loss (SHL).

Methods

Targeted X-chromosome exome sequencing was conducted, and cosegregation analysis was performed in the members of the affected family. The in silico and expression studies were also performed.

Results

A 2-bp missense mutation (c.1717_1718GC>AA, p.A573N) in the G protein-coupled receptor associated sorting protein 2 (GPRASP2) gene was identified in four hemizygous male patients and two heterozygous female carriers,

SUBMITTER: Xing G 

PROVIDER: S-EPMC5502311 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature