Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

ABSTRACT:

Background

The most common inherited peripheral neuropathy is Charcot-Marie-Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathology is not well known.

Methods

The aim of the study was to analyze among a French series of 3,412 patients with inherited peripheral neuropathy (IPN), the ones who also suffer from hearing loss, to establish phenotype-genotype correlations. An NGS strategy for IPN one side and nonsyndromic hearing loss (NSHL) on the other side, were performed.

Results

Hearing loss (HL) was present in only 44 patients (1.30%). The clinical data of 27 patients were usable. Demyelinating neuropathy was

SUBMITTER: Lerat J 

PROVIDER: S-EPMC6732311 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature