Article
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
Journal of human genetics - 1 Jan 2007
Van Laer Lut, Meyer Nicole C, Malekpour Mahdi, Riazalhosseini Yasser, Moghannibashi Mahdi, Kahrizi Kimia, Vandevelde Ann, Alasti Fatemeh, Najmabadi Hossein, Van Camp Guy, Smith Richard J H
Abstract excerpt
Mutations in DFNA5 lead to autosomal dominant non-syndromic sensorineural hearing loss that starts at the high frequencies. To date, only three DFNA5 mutations have been described, and although different at the genomic DNA level, all lead to exon 8 skipping at the mRNA level. This remarkable fact has led towards the hypothesis that DFNA5-associated hearing loss is caused by a gain-of-function mutation and not by...
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