Article
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Nature genetics - 1 Mar 2002
Kurima Kiyoto, Peters Linda M, Yang Yandan, Riazuddin Saima, Ahmed Zubair M, Naz Sadaf, Arnaud Deidre, Drury Stacy, Mo Jianhong, Makishima Tomoko, Ghosh Manju, Menon P S N, Deshmukh Dilip, Oddoux Carole, Ostrer Harry, Khan Shaheen, Riazuddin Sheikh, Deininger Prescott L, Hampton Lori L, Sullivan Susan L, Battey James F, Keats Bronya J B, Wilcox Edward R, Friedman Thomas B, Griffith Andrew J
Abstract excerpt
Positional cloning of hereditary deafness genes is a direct approach to identify molecules and mechanisms underlying auditory function. Here we report a locus for dominant deafness, DFNA36, which maps to human chromosome 9q13-21 in a region overlapping the DFNB7/B11 locus for recessive deafness. We identified eight mutations in a new gene, transmembrane cochlear-expressed gene 1 (TMC1), in a DFNA36 family and...
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