Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

ABSTRACT:

Objective

To identify the underlying genetic cause of a congenital neuropathy in a 5-year-old boy as part of a cohort of 32 patients from 23 families with genetically unresolved neuropathies.

Methods

We used autozygosity mapping coupled with next-generation sequencing to investigate a consanguineous family from Lebanon with 1 affected and 2 healthy children. Variants were investigated for segregation in the family by Sanger sequencing. A splice site mutation was further evaluated on the messenger RNA level by quantitative reverse transcription PCR. Subsequently, a larger cohort was specifically screened for receptor expression-enhancing protein 1 (REEP1) gene mutations.

Results

We detected a homozygous splice donor mutation in REEP1 (c.303+1-7GTAATAT>AC, p.F62Kfs23*;

SUBMITTER: Schottmann G 

PROVIDER: S-EPMC4811389 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature