Article
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
American journal of human genetics - 1 Sept 2002
Naz Sadaf, Giguere Chantal M, Kohrman David C, Mitchem Kristina L, Riazuddin Saima, Morell Robert J, Ramesh Arabandi, Srisailpathy Srikumari, Deshmukh Dilip, Riazuddin Sheikh, Griffith Andrew J, Friedman Thomas B, Smith Richard J H, Wilcox Edward R
Abstract excerpt
We have identified five different homozygous recessive mutations in a novel gene, TMIE (transmembrane inner ear expressed gene), in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6. The mutations include an insertion, a deletion, and three missense mutations, and they indicate that loss of function of TMIE causes hearing loss in...
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