Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
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ABSTRACT:
SUBMITTER: Naz S
PROVIDER: S-EPMC379198 | biostudies-literature | 2002 Sep
REPOSITORIES: biostudies-literature
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Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
Naz Sadaf S Giguere Chantal M CM Kohrman David C DC Mitchem Kristina L KL Riazuddin Saima S Morell Robert J RJ Ramesh Arabandi A Srisailpathy Srikumari S Deshmukh Dilip D Riazuddin Sheikh S Griffith Andrew J AJ Friedman Thomas B TB Smith Richard J H RJ Wilcox Edward R ER
American journal of human genetics 20020724 3
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 humans. TMIE encodes a protein with 156 amino acids and exhibits no significant nucleotid ...[more]
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