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Literature DB >> 12145746

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Sadaf Naz¹, Chantal M Giguere, David C Kohrman, Kristina L Mitchem, Saima Riazuddin, Robert J Morell, Arabandi Ramesh, Srikumari Srisailpathy, Dilip Deshmukh, Sheikh Riazuddin, Andrew J Griffith, Thomas B Friedman, Richard J H Smith, Edward R Wilcox.

Abstract

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 nucleotide or deduced amino acid sequence similarity to any other gene.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2002 PMID： 12145746 PMCID： PMC379198 DOI： 10.1086/342193

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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Authors: Kristina L Mitchem; Ellen Hibbard; Lisa A Beyer; Ken Bosom; Gary A Dootz; David F Dolan; Kenneth R Johnson; Yehoash Raphael; David C Kohrman
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Review 5. The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

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6. tmie Is required for gentamicin uptake by the hair cells of mice.

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