Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.

Gap junction protein beta-1 (GJB1) gene mutations lead to X-linked Charcot-Marie-Tooth Type 1 (CMTX1). We studied a Chinese family with CMTX1 and identified a novel GJB1 point mutation. Our patient had a transient stroke-like clinical manifestations and magnetic resonance imaging (MRI) changes. An analysis of the genomic DNA of the proband showed a T to C hemizygous mutation in the GJB1 gene at nucleotide position 380, causing a predicted amino acid change from isoleucine to threonine at codon 127, which predicted structural alterations disrupting the function of the GJB1 protein. This novel point mutation expanded the spectrum of GJB1 mutations known to be associated with CMTX1. We performed a PubMed review of CMTX cases with central nervous system involvement in the English-language literature from the past 20 years, and summarized the demographic data, nucleotide and amino acid changes, clinical characteristics, clinical manifestations, and neuroimaging features.