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

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.

SUBMITTER: Naz S 

PROVIDER: S-EPMC379198 | biostudies-literature | 2002 Sep

REPOSITORIES: biostudies-literature