Mutation Screening of the GJA7 (Cx45) Gene in a Large International Series of Probands with Nonsyndromic Hearing Impairment
| Autor: | Denise Yan, Xiao Mei Ouyang, Li Lin Du, Mustafa Tekin, İdil Aslan, Xue Zhong Liu |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Proband
China Internationality Turkey Hearing loss DNA Mutational Analysis Biology Connexins Exon South Africa medicine otorhinolaryngologic diseases Missense mutation Humans Family Hearing Loss Peptide sequence Gene Genetics (clinical) Polymorphism Single-Stranded Conformational Genetics General Medicine Original Articles Exons Sequence Analysis DNA medicine.disease United Kingdom United States Connexin 26 Sensorineural hearing loss sense organs medicine.symptom |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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