Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

ABSTRACT:

Objective

The objective of this study was to identify new causes of Charcot-Marie-Tooth (CMT) disease in patients with autosomal-recessive (AR) CMT.

Methods

To efficiently identify novel causative genes for AR-CMT, we analyzed 303 unrelated Japanese patients with CMT using whole-exome sequencing and extracted recessive variants/genes shared among multiple patients. We performed mutation screening of the newly identified membrane metalloendopeptidase (MME) gene in 354 additional patients with CMT. We clinically, genetically, pathologically, and radiologically examined 10 patients with the MME mutation.

Results

We identified recessive mutations in MME in 10 patients. The MME gene encodes neprilysin (NEP), which is well known to be one of the most prominent beta-amyloid

SUBMITTER: Higuchi Y 

PROVIDER: S-EPMC5069600 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature