title: 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.
authors.affiliation: Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA.
authors.forename: Sadaf
authors.initials: S
authors.lastname: Naz
authors.forename: Chantal M
authors.initials: CM
authors.lastname: Giguere
authors.forename: David C
authors.initials: DC
authors.lastname: Kohrman
authors.forename: Kristina L
authors.initials: KL
authors.lastname: Mitchem
authors.forename: Saima
authors.initials: S
authors.lastname: Riazuddin
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Morell
authors.forename: Arabandi
authors.initials: A
authors.lastname: Ramesh
authors.forename: Srikumari
authors.initials: S
authors.lastname: Srisailpathy
authors.forename: Dilip
authors.initials: D
authors.lastname: Deshmukh
authors.forename: Sheikh
authors.initials: S
authors.lastname: Riazuddin
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: Thomas B
authors.initials: TB
authors.lastname: Friedman
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
authors.forename: Edward R
authors.initials: ER
authors.lastname: Wilcox
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: D008565:Membrane Proteins; C466299:TMIE protein, human