Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
Allelic Heterogeneity Among Iranian Dfnb7/11 Families: Report of a New Iranian Deaf Family With Tmc1 Mutation Identified by Next-Generation Sequencing Publisher Pubmed



Davoudidehaghani E1, 2 ; Fallah MS3, 4 ; Tavakkolybazzaz J1 ; Bagherian H3 ; Zeinali S2, 3
Authors

Source: Acta Oto-Laryngologica Published:2015


Abstract

Conclusion: Co-segregation of c.2030T>C mutation with hearing loss in an Iranian family and absence of this mutation in 100 Iranian controls confirms the pathogenicity of this mutation. Allelic heterogeneity among Iranian DFNB7/11 families has been shown by the identification of six different mutations in eight families. Objectives: Transmembrane channel-like 1 (TMC1) gene encodes an integral membrane protein such that its mutations can cause DFNB7/11 hearing loss. To date, several TMC1 mutations have been reported from Iran. Here we report a new DFNB7/11 Iranian family with an unreported TMC1 mutation in Iran. Methods: A total of 66 genes related to hearing loss were analyzed using the OtoSCOPE platform in an affected member of an Iranian deaf family (Irn-Deaf-6866). Sanger sequencing was performed to confirm next-generation sequencing findings. Results: A mutation, c.2030T>C, was identified in exon 21 of the TMC1 gene in the investigated member of the family. Sequencing results in all members of the family confirmed association of this mutation with hearing loss. None of 100 ethnically matched healthy controls had this mutation. © 2015 Informa Healthcare.
Related Docs
View other Related Docs
1. A Novel Pathogenic Variant in the Lrtomt Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family, BMC Medical Genetics (2020)
2. Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran, Iranian Journal of Public Health (2020)
3. Specific Distribution of Gjb2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population, Journal of Sciences# Islamic Republic of Iran (2017)
Experts (# of related papers)
View all Related Experts
Mohammad Hossein Modarressi (2)
Sayed Hamidreza Abtahi (1)
Other Related Docs
4. Epidemiology, Etiology, Genetic Variants in Non- Syndromic Hearing Loss in Iran: A Systematic Review and Meta‐Analysis, International Journal of Pediatric Otorhinolaryngology (2023)
5. The Role and Spectrum of Slc26a4 Mutations in Iranian Patients With Autosomal Recessive Hereditary Deafness, International Journal of Audiology (2015)
6. Screening of 10 Dfnb Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for Gjb2 Mutations, Iranian Journal of Public Health (2019)
7. Mutation in Second Exon of Myo15a Gene Cause of Nonsyndromic Hearing Loss and Its Association in the Arab Population in Iran, Genetika (2016)
8. A Novel Tecta Mutation Causes Arnshl, International Journal of Pediatric Otorhinolaryngology (2017)
9. Screening of Myo7a Mutations in Iranian Patients With Autosomal Recessive Hearing Loss From West of Iran, Iranian Journal of Public Health (2017)
10. Mutation Analysis of Gjb2 and Gjb6 Genes and Screening of Nine Common Dfnb Loci in Iranian Pedigrees With Autosomal Recessive Nonsyndromic Hearing Loss, Indian Journal of Otology (2019)
11. Gjb2 Mutations Causing Autosomal Recessive Non-Syndromic Hearing Loss (Arnshl) in Two Iranian Populations: Report of Two Novel Variants, International Journal of Pediatric Otorhinolaryngology (2018)
12. Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran, Journal of Audiology and Otology (2019)
13. Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss, Iranian Biomedical Journal (2021)
14. Identification of a Novel Wfs1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree With Autosomal Dominant Hearing Loss, Iranian Journal of Otorhinolaryngology (2021)
15. Mutation Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Central Iran, International Journal of Pediatric Otorhinolaryngology (2015)
16. Identification of Novel Variants in Iranian Consanguineous Pedigrees With Nonsyndromic Hearing Loss by Next-Generation Sequencing, Journal of Clinical Laboratory Analysis (2020)
17. Gjb2 C.−23+1G>A Mutation Is Second Most Common Mutation Among Iranian Individuals With Autosomal Recessive Hearing Loss, European Archives of Oto-Rhino-Laryngology (2015)
18. Identification of a Novel Frameshift Mutation in the Tecta Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss, Acta Medica Iranica (2021)
19. Gjb2 Mutations in Deaf Population of Ilam (Western Iran): A Different Pattern of Mutation Distribution, European Archives of Oto-Rhino-Laryngology (2016)
20. A Novel Variant of Slc26a4 and First Report of the C.716T>A Variant in Iranian Pedigrees With Non-Syndromic Sensorineural Hearing Loss, American Journal of Otolaryngology - Head and Neck Medicine and Surgery (2018)