[Analysis of GDAP1 gene mutation in a pedigree with autosomal dominant Charcot-Marie-Tooth disease].

ABSTRACT: OBJECTIVE:To investigate the molecular genetic mechanism of Charcot- Marie-Tooth (CMT) disease in a pedigree. METHODS:Genomic DNA was extracted from the peripheral blood of the family members of a pedigree with autosomal dominant CMT disease, and 65 candidate genes of the proband were screened using target exon capture and the next generation sequencing, and the suspicious genes were verified using Sanger sequencing. PolyPhen-2, PROVEAN and SIFT software were used to predict the function of the mutant genes, and PyMOL-1 software was used to simulate the mutant protein structure. RESULTS:A heterozygous missense mutation [c.371A>G (p.Y124C)] was detected in exon 3 of GDAP1 gene of the proband. This heterozygous mutation was also detected in both the proband's mother and her brother, but n

SUBMITTER: Qin L 

PROVIDER: S-EPMC6765573 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature