GJB1


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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 ?
In the present series, mutations of five patients with CNS involvement were located in the N-terminal, TM1, and TM3 domains of GJB1 gene.
Mutations in the EC2 domain of the GJB1 gene were hotspot in Chinese CMT1X patients.
The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease (in Chinese).
A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.
Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation.
On molecular analysis, nine GJB1 missense mutations, including c.
00, respectively) to be “probably damaging” and capable of disrupting the function of GJB1 .
In this study, nine missense mutations within GJB1 were identified, of which three were novel missense mutations discovered using molecular analysis.
The reported GJB1 mutations are predicted to affect all regions of the CX32 protein.
sup][23],[24],[25] All GJB1 mutations likely cause loss-of-function and seldom cause gain-of-function,[sup][17],[24],[25] and this may explain the results of our study.
We have demonstrated a rapid and sensitive method for mutation scanning the GJB1 gene by use of the ds DNA-binding dye LC Green Plus and a 96-well format dedicated melting and detection instrument (LightScanner).
Although the coding region of the GJB1 gene is only a single-exon gene, it allowed us to test and validate HRM as a gene-scanning method for an X-linked disorder, in which all heterozygous female and homozygous male mutations were detected.