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Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus.
- Source :
-
American Journal of Human Genetics . Sep2002, Vol. 71 Issue 3, p632-636. 5p. - Publication Year :
- 2002
-
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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *GENETIC mutation
*HEARING disorders
*GENETIC disorders
Subjects
Details
- Language :
- English
- ISSN :
- 00029297
- Volume :
- 71
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- American Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 7226500
- Full Text :
- https://doi.org/10.1086/342193