Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
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.
Naz
Sadaf
S
Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA.
Giguere
Chantal M
CM
Kohrman
David C
DC
Mitchem
Kristina L
KL
Riazuddin
Saima
S
Morell
Robert J
RJ
Ramesh
Arabandi
A
Srisailpathy
Srikumari
S
Deshmukh
Dilip
D
Riazuddin
Sheikh
S
Griffith
Andrew J
AJ
Friedman
Thomas B
TB
Smith
Richard J H
RJ
Wilcox
Edward R
ER
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
D008565:Membrane Proteins; C466299:TMIE protein, human