Abstract
A gene responsible for autosomal dominant non-syndromic hearing impairment in two families (DFNA8 and DFNA12) has recently been identified as TECTA encoding α-tectorin, a major component of the tectorial membrane. In these families, missense mutations within the zona pellucida domain of α-tectorin were associated with stable severe mid-frequency hearing loss. The present study reports linkage to DFNA12 in a new family with autosomal dominant high frequency hearing loss progressing from mild to moderate severity. The candidate region refined to 3.8 cM still contained the TECTA gene. A missense mutation (C1619S) was identified in the zonadhesin-like domain. This mutation abolishes the first of the vicinal cysteines (1619Cys–Gly–Leu–1622Cys) present in the D4 von Willebrand factor (vWf) type D repeat. These results further support the involvement of TECTA mutations in autosomal dominant hearing impairment, and suggest that vicinal cysteines are involved in tectorial membrane matrix assembly.
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Alloisio, N., Morlé, L., Bozon, M. et al. Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss. Eur J Hum Genet 7, 255–258 (1999). https://doi.org/10.1038/sj.ejhg.5200273
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DOI: https://doi.org/10.1038/sj.ejhg.5200273
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