Mutations in a novel gene,TMIE, are associated with hearing loss linked to the DFNB6 locus |
| |
| Authors: | Naz Sadaf Giguere Chantal M Kohrman David C Mitchem Kristina L Riazuddin Saima Morell Robert J Ramesh Arabandi Srisailpathy Srikumari Deshmukh Dilip Riazuddin Sheikh Griffith Andrew J Friedman Thomas B Smith Richard J H Wilcox Edward R |
| |
| Institution: | 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. |
| |
| Keywords: | |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ |
|
