n South African Medical Journal - No evidence for clinical utility in investigating the connexin genes , and in non-syndromic hearing loss in black Africans : forum - genetics in medicine




Deafness is the most common sensory disability in the world. Globally, mutations in (connexin 26) have been shown to play a major role in non-syndromic deafness. Two other connexin genes, (connexin 30) and (connexin 43), have been implicated in hearing loss, but these genes have seldom been investigated in black Africans. We aimed to validate the utility of testing for , and in an African context.

Two hundred and five patients with non-syndromic deafness from Cameroon and South Africa had the full coding regions of sequenced. Subsequently, a carefully selected subset of 100 patients was further sequenced for and using Sanger cycle sequencing. In addition, the large-scale -D3S1830 deletion was investigated.
No pathogenic mutations that could explain the hearing loss were detected in , or , and the -D3S1830 deletion was not detected. There were no statistically significant differences in genomic variations in these genes between patients and controls. A comprehensive literature review supported these findings.
Mutations in , and are not a major cause of non-syndromic deafness in black Africans and should not be investigated routinely in clinical practice.


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