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Connexin 26 gene linked to a dominant deafness

Abstract

A high proportion of all cases of congenital deafness is causedby mutations in a gene coding for a gap-junction protein,connexin 26. The deafness associated with this gene, Cx26, is the autosomal recessive form, DFNB1(refs 13); its involvement in autosomal dominant forms of deafness has remained controversial4. Here we show that a mutation in Cx26 underlies the dominant form of deafness, DFNA3.

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Figure 1: Sequence analysis of the Cx26 coding exon in an affected individual, showing the G-to-C transversion at codon position 44.

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Denoyelle, F., Lina-Granade, G., Plauchu, H. et al. Connexin 26 gene linked to a dominant deafness. Nature 393, 319–320 (1998). https://doi.org/10.1038/30639

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