Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.

ABSTRACT:

Objective

To identify and characterize the pathogenicity of novel variants in Chinese patients with Charcot-Marie-Tooth disease.

Methods

Multiplex ligation-dependent probe amplification (MLPA) and whole-exome sequencing (WES) were performed in 30 unrelated CMT patients. Minigene assay was used to verify the effect of a novel splicing variant (c.694+1G>A) on pre-mRNA. Primary fibroblast cell lines were established from skin biopsies to characterize the biological effects of the novel variants p.L26R and p.S169fs. The mitochondrial structure was observed by an electron microscope. The expression level of protein was analyzed by Western Blotting. Mitochondrial dynamics and mitochondrial membrane potential (MMP, Δψm) were analyzed via immunofluorescence study. Mitochondrial ATP

SUBMITTER: Chen CX 

PROVIDER: S-EPMC7732252 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature