GJB1

(redirected from CMTX1)

GJB1

A gene on chromosome Xq13.1 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB1 mutations cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy.
References in periodicals archive ?
CNS involvement in CMTX1 caused by a novel connexin 32 mutation: A 6-year follow-up in neuroimaging and nerve conduction.
Clinical examination, nerve conduction studies, and molecular and bioinformatics analyses were performed to identify patients with CMTX1.
On the other hand, genetic testing provides an exact diagnosis of a specific subtype of CMT, including CMT1A, CMT1B, CMT1C, CMT1D, CMT1F, CMTX1, CMT2A1, CMT2A2, CMT2B, and CMT2O.
sup][6] So far, five loci have been reported for CMTX: CMTX1 (OMIM 304040), CMTX2 (OMIM 302801), CMTX3 (OMIM 302802), CMTX4 (OMIM 310490), and CMTX5 (OMIM 311070).
sup][18] Although some cases have been reported to have “recessive” CMTX1, some obligate carriers among these have electrophysiological evidence of peripheral neuropathy.
sup][4] There is a gender-based predisposition, and males are usually more affected than females in CMTX1.
CNS involvement has been reported in CMTX1 patients.
CMTX1 (MIM 302800) is an X-linked dominant trait caused by mutations in the GJB1 [gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)] gene (3).
1G) are previously unreported novel mutations that further demonstrate the allelic heterogeneity of CMTX1.