Mutations in TMC1 Are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population
- Hildebrand, MS; Kahrizi, K; Bromhead, CJ; Shearer, AE; Webster, JA; Khodaei, H; Abtahi, R; Bazazzadegan, N; Babanejad, M; Nikzat, N; Kimberling, WJ; Stephan, D; Huygen, PLM; Bahlo, M; Smith, RJH; Najmabadi, H;
Publication Year 2010-12-01, Volume 119, Issue #12, Page 830-835
- Journal Title
- ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY
- Publication Type
- Journal Article
- Objectives: We investigated the cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) that segregated in 2 consanguineous Iranian families. Methods: Otologic and audiometric examinations were performed on affected members of each family. Genome-wide parametric multipoint linkage mapping using a recessive model was performed with Affymetrix 50K GeneChips or short tandem repeat polymorphisms. Direct sequencing was used to confirm the causative mutation in each family. Results: In 2 Iranian families, L-1651 and L-8600606, with ARNSHL that mapped to the DFNB7/11 locus, homozygosity for a reported splice site mutation (c.776+1G>A), and a novel deletion (c.1589_1590delCT; p.S530*) were identified in the TMC1 gene, respectively. Conclusions: Consistent with the previously reported phenotype in DFNB7/11 families, the 2 Iranian families had segregated congenital, profound hearing impairment. However, in family L-1651, one affected family member (IV:3) has milder hearing impairment than expected, suggesting a potential genetic modifier effect. These results indicate that DFNB7/11 is a common form of genetic hearing loss in Iran, because this population is the source of 6 of the 29 TMC1 mutations reported worldwide.
- ANNALS PUBL CO
- DOMINANT; DEAFNESS; DFNA36; IMPAIRMENT; LOCUS; MOUSE; GENE; MODEL; DNA
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Creation Date: 2010-12-01 12:00:00Last Modified: 0001-01-01 12:00:00