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Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment.

ABSTRACT: Direct evidence of the critical physiological role of connexins (Cxs) has come through the associations of several human diseases with pathogenic mutations in specific Cx genes. Currently, mutations in genes coding for five Cx proteins (Cx26, Cx30, Cx31, Cx32, and Cx43) have been shown to cause sensorineural hearing loss. Cx45 is another gap junction protein, coded by the GJA7 gene. To investigate the possible contribution of GJA7 mutations to deafness, we sequenced the GJA7 gene in 341 unrelated probands with nonsyndromic hearing loss from Turkey, South Africa, United Kingdom, United States, and China. Three nucleotide variants not affecting the amino acid sequence, c.213C>T, c.906C>T, and c.912G>T, and one missense change, c.889C>A (p.D297N), were found. None of the identified changes appeared to be pathogenic. Our data suggest that GJA7 alterations have no or low genetic relevance in nonsyndromic hearing loss in these populations.

SUBMITTER: Ouyang XM 

PROVIDER: S-EPMC3085143 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature

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Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment.

Ouyang Xiao Mei XM   Yan Denise D   Aslan Idil I   Du Li Lin LL   Tekin Mustafa M   Liu Xue-Zhong XZ  

Genetic testing and molecular biomarkers 20110122 5

Direct evidence of the critical physiological role of connexins (Cxs) has come through the associations of several human diseases with pathogenic mutations in specific Cx genes. Currently, mutations in genes coding for five Cx proteins (Cx26, Cx30, Cx31, Cx32, and Cx43) have been shown to cause sensorineural hearing loss. Cx45 is another gap junction protein, coded by the GJA7 gene. To investigate the possible contribution of GJA7 mutations to deafness, we sequenced the GJA7 gene in 341 unrelate  ...[more]

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