Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
Level V
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- Record sourced from PubMed, PMID 12145746.
- Also identified by PMC identifier 379198.
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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.
Medical subject headings
- Chromosomes, Human, Pair 3
- Deafness
- Genetic Linkage
- Membrane Proteins
- Mutation