A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.

ABSTRACT:

Background

Charcot-Marie-Tooth (CMT) disease is a very heterogeneous neurological condition with more than 90 reported genetic entities. It is the most common inherited peripheral neuropathy; however, cases are rarely reported in sub-Saharan Africa. In addition, only few families, mostly of Caucasian ancestry, have been reported to have Charcot-Marie-Tooth disease type 2D (CMT2D) mutations. To date no case of CMT2D was reported in Africa. We present here a consanguineous family with CMT phenotype in which a novel mutation in the GARS (glycyl-tRNA synthetase) gene was identified.

Methods

Patients were examined thoroughly and nerve conduction studies (NCS) were performed. DNA from the proband was used for CMT gene panel testing (including 50 genes, PMP22 duplication and mtDNA)

SUBMITTER: Yalcouye A 

PROVIDER: S-EPMC6625146 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature