GJB3

GJB3

Notation for a gene for DFNA2.

GJB3

A gene on chromosome 1q34 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB3 mutations are linked to non-syndromic deafness or erythrokeratodermia variabilis.
References in periodicals archive ?
Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes are known to be a common cause of hearing loss.
Current study was initiated to analyze the 20 most common mutations by MALDI-TOF-MS method in deafness-associated genes (GJB2, GJB3, SLC26A4 and mitochondrial 12SrRNA) in 3,331 newborns from Anhui Province of China.
Key words: Deafness, Mutations, GJB2, GJB3, SLC26A4, Mitochondrial 12SrRNA, Postnatal genetic screening
Analysis of data revealed that overall 6.21% (207/3331) of subjects were carrying heterozygous or homozygous mutations in four selected genes (GJB2, GJB3, SLC26A4, and mitochondrial 12SrRNA) through screening by MALDI-TOF-MS.
Total five mutations in GJB2, 2 in GJB3, 11 in SLC26A4 and 2 in mitochondrial 12SrRNA were studied.
Most cases of ADNSHHI are characterized by postlingual progressive sensorineural hearing loss, with the age of onset mostly being in the second or the 3 [sup]rd year, such as is the case with KCNQ4 , [sup][11] GJB3 , [sup][12] and MYH14 .
CON mutations have been identified in both the PSEK and EKV families, including CON 31 (GJB3) and CON 30.3 (GJB4).10
Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.