期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 71, 期 3, 页码 632-636出版社
UNIV CHICAGO PRESS
DOI: 10.1086/342193
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资金
- Intramural NIH HHS [Z01 DC000039, Z01 DC000064] Funding Source: Medline
- NIDCD NIH HHS [R01-DC02842, T32 DC000035, R01 DC004410, 1 Z01 DC00035-04, R01-DC04410, R01 DC002842, 1 Z01 DC000064-01, 1 Z01 DC 0039-04] Funding Source: Medline
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.
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