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
  • 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.