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. Epub 2002 Jul 24.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 3 / genetics*
  • Consanguinity
  • Deafness / genetics*
  • Female
  • Genes, Recessive / genetics
  • Genetic Linkage / genetics*
  • Haplotypes / genetics
  • Homozygote
  • Humans
  • Male
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree


  • Membrane Proteins
  • TMIE protein, human

Associated data

  • GENBANK/AY081842