Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment.
Genet Test Mol Biomarkers
; 15(5): 333-6, 2011 May.
Article
em En
| MEDLINE
| ID: mdl-21254920
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise Mutacional de DNA
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Conexinas
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Perda Auditiva
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
Humans
País como assunto:
Africa
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America do norte
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Asia
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Europa
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article