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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References in periodicals archive ?
The use of inherited disease genes sequencing panel identified the causative and novel variants in deafness related genes (GJB2, MYO7A, CDH23, TH and EVC2) in deaf brothers.
Babanejad et al., "Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population," American Journal of Medical Genetics A, vol.
GJB2 sequencing in deaf and profound sensorineural hearing loss children.
The most common mutations in the GJB2 gene in Caucasians and Asckenasi Jews is the c.35delG mutation, followed by the c.167delT mutation.
Based on these results we suggest a routine screening for GJB2 gene mutations in Syrian population which could enhance the chance of detecting affected newborns with sporadic nonsyndromic HI at an early stage and consequently improves the current diagnostic and therapeutic options.
With the exception of Ghana, [10] mutations in GJB2 (connexin 26) have not been shown to be a major contributor to deafness in sub-Sahara Africa.
Segun reportes en poblacion espano la, esta mutacion ocupa el tercer lugar en frecuencia luego de las mutaciones 35delg en el gen gJB2, y del (gJB6D13S1830) en el gen gJB6.
Screening for GJB2 mutations should be considered in all nonsyndromic HL cases with an unknown etiology.
(San Diego, CA) signed a license agreement with Institut Pasteur (Paris, France) that grants Nanogen exclusive rights in Europe to certain patents and patent applications relating to detection of mutations in the GJB2 gene for the diagnosis of hereditary deafness.
[8] Human Genes: ZFX, zincfinger protein, X-linked; ZFY, zinc finger protein, Y-linked; GJB2, gap junction protein beta 2; OTC, ornithine carbamoyltransferase.