Tiago Melillo de Matos - Academia.edu (original) (raw)
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University of Engineering and Technology peshawar
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Mutations in the GJB2 gene are responsible for a considerable proportion of nonsyndromic sensorin... more Mutations in the GJB2 gene are responsible for a considerable proportion of nonsyndromic sensorineural hearing loss (NSSHL), in several populations. This gene is a member of a gene family coding for connexins, the subunits of the hemichannels (connexons) which form the intercellular channels of the gap junctions existing in the vertebrates and tunicates. Connexin-26 (Cx26), encoded by the GJB2 gene, is expressed in several tissues, including specific epithelial and conjunctive tissues of the cochlea, the auditory organ which is localised to the inner ear. In the cochlea, Cx26 is co-expressed with connexin-30 (Cx30), encoded by the GJB6 gene, in several cell types. Two large GJB6 deletions are involved in several hearing loss (HL) cases, as well, being most of these cases due to compound heterozygosity with a GJB2 mutation. Given the relevance of both GJB2 and GJB6 genes to the HL etiology in several populations, the molecular diagnosis of NSSHL cases with probable genetic cause is u...
Mutations in the GJB2 gene are responsible for a considerable proportion of nonsyndromic sensorin... more Mutations in the GJB2 gene are responsible for a considerable proportion of nonsyndromic sensorineural hearing loss (NSSHL), in several populations. This gene is a member of a gene family coding for connexins, the subunits of the hemichannels (connexons) which form the intercellular channels of the gap junctions existing in the vertebrates and tunicates. Connexin-26 (Cx26), encoded by the GJB2 gene, is expressed in several tissues, including specific epithelial and conjunctive tissues of the cochlea, the auditory organ which is localised to the inner ear. In the cochlea, Cx26 is co-expressed with connexin-30 (Cx30), encoded by the GJB6 gene, in several cell types. Two large GJB6 deletions are involved in several hearing loss (HL) cases, as well, being most of these cases due to compound heterozygosity with a GJB2 mutation. Given the relevance of both GJB2 and GJB6 genes to the HL etiology in several populations, the molecular diagnosis of NSSHL cases with probable genetic cause is u...