Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population
Year: 2010
Type: article
Abstract: 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.
Authors: Michael S. Hildebrand, Kimia Kahrizi, Catherine J. Bromhead, A. Eliot Shearer, Jennifer A. Webster, Hossein Khodaei, Rezvan Abtahi, Niloofar Bazazzadegan, Mojgan Babanejad, Nooshin Nikzat, William J. Kimberling, Dietrich Stephan, Patrick L. M. Huygen, Melanie Bahlo, Richard J. H. Smith, Hossein Najmabadi
Institutions: University of Iowa, University of Social Welfare and Rehabilitation Sciences, Walter and Eliza Hall Institute of Medical Research, Translational Genomics Research Institute, Boys Town National Research Hospital, Banner Alzheimer’s Institute, Arizona Alzheimer’s Consortium, Radboud University Nijmegen, Radboud University Medical Center
Language: English
Subfield: Sensory Systems
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2075175503