ArticleThe Annals of otology, rhinology, and laryngology2010
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
Article in The Annals of otology, rhinology, and laryngology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 31 citations in OpenAlex.
- Review
- Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.Molecular genetics & genomic medicine · 2020Article
- rAAV-Mediated Cochlear Gene Therapy: Prospects and Challenges for Clinical Application.Journal of clinical medicine · 2020Review
- Distinct functions of TMC channels: a comparative overview.Cellular and molecular life sciences : CMLS · 2019Review
- Ultrastructural localization of the likely mechanoelectrical transduction channel protein, transmembrane-like channel 1 (TMC1) during development of cochlear hair cells.Scientific reports · 2019Article
- Identification of a novel homozygous mutation in transmembrane channel like 1 (The Indian journal of medical research · 2017Article
- Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Archives of Iranian medicine · 2016Review
- Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Recessive mutations of TMC1 associated with moderate to severe hearing loss.Neurogenetics · 2016Article
- Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran.Iranian Red Crescent medical journal · 2016Article
- The physiology of mechanoelectrical transduction channels in hearing.Physiological reviews · 2014Review
- Article
- Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.PloS one · 2012Article
- Perception of sound and gravity by TMC1 and TMC2.The Journal of clinical investigation · 2011Article
- Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.Genome biology · 2011Article
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 4 countries.
Funding
Abstract
objectivesWe investigated the cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) that segregated in 2 consanguineous Iranian families.
methodsOtologic 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.
resultsIn 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.
conclusionsConsistent 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.
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