Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations.

ABSTRACT: Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in the GNB4 gene cause dominant intermediate CMT type F (CMTDIF). The aim of this study is to investigate phenotypic heterogeneities and characteristics of CMT patients with GNB4 mutations. We enrolled 1143 Korean CMT families and excluded 344 families with a PMP22 duplication. We further analyzed the 799 remaining families to find their GNB4 mutations using whole-exome sequencing (WES). We identified two mutations (p.Gly77Arg and p.Lys89Glu) in three families, among which a heterozygous p.Gly77Arg mutation was novel. In addition, a significant uncertain variant (p.Thr177Asn) was observed in one family. The frequency of the GNB4 mutation in the Korean populatio

SUBMITTER: Kwon HM 

PROVIDER: S-EPMC8227704 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature