Abstract
We report a mutation in the connexin 26 gene (Cx26) in a consanguineous Moroccan family linked to the DFNA3/DFNB1 locus on human chromosome 13q11-q12. Affected subjects display congenital, bilateral, sensorineural hearing loss. We have previously identified Cx26 mutations in consanguineous Pakistani families. This current finding indicates that Cx26 mutations are not restricted to ethnically and geographically distinct populations. This is an important observation since it will help to determine the overall contribution of connexin 26 mutations to autosomal deafness in different populations.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Kelsell D. P., Dunlop J., Stevens H. P., Lench N. J., Liang J. N., Parry G., Mueller R. F., Leigh I. M. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 1997 May 1;387(6628):80–83. doi: 10.1038/387080a0. [DOI] [PubMed] [Google Scholar]
- Kumar N. M., Gilula N. B. The gap junction communication channel. Cell. 1996 Feb 9;84(3):381–388. doi: 10.1016/s0092-8674(00)81282-9. [DOI] [PubMed] [Google Scholar]
- Maw M. A., Allen-Powell D. R., Goodey R. J., Stewart I. A., Nancarrow D. J., Hayward N. K., Gardner R. J. The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. Am J Hum Genet. 1995 Sep;57(3):629–635. [PMC free article] [PubMed] [Google Scholar]
- Van Camp G., Willems P. J., Smith R. J. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet. 1997 Apr;60(4):758–764. [PMC free article] [PubMed] [Google Scholar]