The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort.

ABSTRACT: Introduction: Charcot-Marie-Tooth disease type 2A (CMT2A) is a group of clinically and genetically heterogeneous disorders, which is mostly caused by mutations of the mitofusin2 (MFN2) gene. As the genotype-phenotype characteristics of CMT2A were still incompletely understood, we further explored the spectrum of CMT2A variants in China and demonstrated their phenotypic diversities. Methods: A total of 402 index patients/families with CMT throughout Mainland China were enrolled in this study. Among them, we analyzed 20 unrelated index cases with CMT2A by Sanger sequencing, next-generation sequencing, or whole-exome sequencing. Detailed clinical and genetic features of CMT2A patients were collected and analyzed. Of note, de novo mutations were not rare in MFN2 gen

SUBMITTER: Ma Y 

PROVIDER: S-EPMC8548668 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature