However, most of CMT cases have mutant variants in other genes, hindering targeted genetic diagnosis.[10] Recently, novel genetic diagnostic methods such as WES facilitated the diagnosis of CMT through the identification of the disease-causing mutation(s).[11] In this study, we identified a rare causative mutation in GJB1 via WES in a Chinese family with CMT, and conducted the prenatal diagnosis for the proband using Sanger sequencing. This evidence concerns the gene GJB1 and Charcot-Marie-Tooth disease.