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

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

  • Am J Hum Genet. 2002 Sep;71(3):632-6. doi: 10.1086/342193.
Sadaf Naz 1,  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
Affiliations

Affiliation

  • 1 Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA.
PMID: 12145746 DOI: 10.1086/342193
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.

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