Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.

ABSTRACT:

Background

Charcot-Marie-Tooth (CMT) disease is one of the most common hereditary neuropathies. Identifying causative mutations in CMT is essential as it provides important information for genetic diagnosis and counseling. However, genetic information of Vietnamese patients diagnosed with CMT is currently not available.

Methods

In this study, we described the clinical profile and determined the mutation spectrum of CMT in a cohort of Vietnamese patients with CMT by using a combination of multiplex ligation-dependent probe amplification and next-generation sequencing targeting 11 genes PMP22, MPZ, EGR2, NEFL, MFN2, GDAP1, GARS, MTMR2, GJB1, RAB7A, LITAF.

Results

In 31 CMT cases, the mutation detection rate was 42% and the most common genetic aberration was PMP22 duplic

SUBMITTER: Nguyen-Le TH 

PROVIDER: S-EPMC9480926 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature