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 ?
Among 22 patients, the frequency of the GJB1 mutations was 4.5% in transmembrane domain 1 (TM1), 4.5% in TM2, 22.7% in TM3, 9.1% in TM4, 4.5% in extracellular 1 (EC1), 27.3% in EC2, 9.1% in intracellular loop, 13.6% in the N-terminal domain, and 4.5% in the C-terminal domain [Figure 2].{Figure 2}
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).
MCVs and SCVs were reduced or not detected in patients with GJB1 mutations.
On molecular analysis, nine GJB1 missense mutations, including c.283G>A, c.77C>T, c.643C>T, c.515C>T, c.191G>A, c.610C>T, c.490C>T, c.491G>A, and c.44G>A, were revealed in nine unrelated patients.
The c.643C>T, c.191G>A, and c.610C>T mutations would result in amino acid changes from arginine (R) to tryptophan (W) at codon 215 (p.R215W), cysteine (C) to tyrosine (Y) at codon 64 (p.C64Y), and leucine (L) to phenylalanine (F) at codon 204 (p.L204F), respectively, and were predicted by the PolyPhen-2 software (score 0.999, sensitivity 0.14, specificity 0.99; score 1.000; sensitivity 0.00, specificity 1.00; and score 1.000; sensitivity 0.00, specificity 1.00, 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.
Primers to amplify 4 overlapping amplicons were designed with the Oligo Program Version 6 (Molecular Biology Insights) to provide comprehensive coverage of the GJB1 single-exon 852-bp open reading frame.
A total of 18 known GJB1 mutations (mutations 1-18, Fig.
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.