GJB2

(redirected from DFNB1)

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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Across all ethnic groups, the most common carrier frequencies for clinically significant disorders were for cystic fibrosis, DFNB1 nonsyndromic hearing loss and deafness, spinal muscular atrophy, familial Mediterranean fever, Smith-Lernli-Opitz syndrome, sickle cell disease/beta-thalassemia, and Gaucher disease.
For example, the DFNB1 locus is shown to cause both syndromic (Palmoplantar Keratoderma--PPK, Keratitis Ichthyosis deafness--KID) as well as non syndromic hearing impairment.
In autosomal recessive, the first locus DFNB1 (Cx26 gene) was identified in two Tunisian consanguineous families with bilateral profound prelingual hearing impairment (10).
Non syndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel.
The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population.
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.