DFNB1A | definition of DFNB1A by Medical dictionary
GJB2 (redirected from DFNB1A)
Notation for a gene for DFNA3 and the gene for DFNB1.
Farlex Partner Medical Dictionary © Farlex 2012
GJB2 A gene on chromosome 13q11-q12 that encodes a beta chain of the gap junction protein family or connexions.
GJB2 mutations are linked to as many as 50% of pre-lingual recessive deafness, and specifically Bart-Pumphrey syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive
The most frequent recessive form of SNHL (more than 50% of cases and 20%-25% of all causes of congenital hearing disorder ) is known as ARNSHL DFNB1A
, according to the classification in Hereditary Hearing Loss Homepage ; it is linked to mutation of GJB2 (gap junction beta-2) gene, coding for a transmembrane protein called connexin 26 [5, 37, 42-44].