GJB2


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GJB2

Notation for a gene for DFNA3 and the gene for DFNB1.

GJB2

A gene on chromosome 13q11-q12 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB2 mutations are linked to as many as 50% of pre-lingual recessive deafness, and specifically Bart-Pumphrey syndrome.
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Studies have so far reported that GJB2 mutations generally cause severe (81-100 db) and profound (more than 100 db) prelingual sensoryneural hearing loss (23).
457G>A, was found heterozygously, again in the GJB2 gene.
Approximately half of the genetically inherited hearing loss cases in Caucasians and 1/3 of nonsyndromic hearing loss in the Greek population are associated with mutations in GJB2 gene.
In the East Asian region, the 235delC of GJB2 is the most frequent cause of inherited nonsyndromic deafness ranging from 5.
Our report and review of the literature confirmed that GJB2 gene is of little significance in non-syndromic hearing loss in populations of African descent (Table 1).
From our analysis, there is no evidence that mutations in GJB2, GJB6 or GJA1 are associated with non-syndromic deafness in sub-Saharan African patients.
A novel deletion involving the connexin-30 gene, del(GJB6d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population.
GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.
Further investigation using targeted gene capture and NGS showed that this patient was a compound heterozygote for two mutations in the GJB2 gene, a condition that has been reported to cause HHI.
Tem-se verificado diferentes frequencias da mutacao 35delG do gene GJB2 em diferentes populacoes.