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Am J Hum Genet. 2002 Sep;71(3):632-6. Epub 2002 Jul 24.

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

Author information

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.

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.

PMID:
12145746
PMCID:
PMC379198
DOI:
10.1086/342193
[Indexed for MEDLINE]
Free PMC Article

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