A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.

ABSTRACT:

Background

Mutations in MPV17 cause the autosomal recessive disorder mitochondrial DNA depletion syndrome 6 (MTDPS6), also called Navajo neurohepatopathy (NNH). Clinical features of MTDPS6 is infantile onset of progressive liver failure with seldom development of progressive neurologic involvement.

Methods

Whole exome sequencing (WES) was performed to isolate the causative gene of two unrelated neuropathy patients (9 and 13 years of age) with onset of the syndrome. Clinical assessments and biochemical analysis were performed.

Results

A novel homozygous mutation (p.R41Q) in MPV17 was found by WES in both patients. Both showed axonal sensorimotor polyneuropathy without liver and brain involvement, which is neurophysiologically similar to axonal Charcot-Marie-Tooth disea

SUBMITTER: Choi YR 

PROVIDER: S-EPMC4595119 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature