Evidence map›Paper›PMID 41231290›Full record

ArticleMolecular biology reports2025

Genetic and clinical aspects of TMC1-related hearing loss in Iranian families: identification of two novel variants.

Mohammad Amin Ghalavand, Alimohamad Asghari, Mina Mohammadi Sarband, Hessamaldin Emamdjomeh, Masoud Garshasbi, Saeid Morovvati, Masoumeh Falah

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Article in Molecular biology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Mohammad Amin GhalavandENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.ORCID http://orcid.org/0000-0001-5446-1126
Alimohamad AsghariENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.ORCID http://orcid.org/0000-0002-9107-4309
Mina Mohammadi SarbandGenetic Counseling Center, State Welfare Organization, Tehran, Iran.
Hessamaldin EmamdjomehENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Masoud GarshasbiDepartment of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.ORCID http://orcid.org/0000-0002-5508-7903
Saeid MorovvatiDepartment of Genetics, Faculty of Advanced Sciences and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran. morovvati@hotmail.com.ORCID http://orcid.org/0000-0001-8838-1044
Masoumeh FalahENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. Falah.m@iums.ac.ir.ORCID http://orcid.org/0000-0002-2800-4199

Funding

Iran University of Medical Sciences 1402-1-86-25517
6 · The paper itself

Abstract

backgroundTransmembrane channel-like protein 1 (TMC1) represents the most critical constituent among the elements comprising the mechanotransduction channel located on the surface of auditory hair cells within the inner ear, and it can be considered as one of the essential proteins in the transport of ligands and the hearing process. Variations in TMC1 are recognized as the etiological factors for both autosomal dominant and recessive non-syndromic hearing loss. We present 10 independent families with TMC1 mutations from an Iranian cohort of individuals with hearing loss. METHODS AND

resultsWhole-exome sequencing (WES) was conducted subsequent to a comprehensive medical assessment. The American College of Medical Genetics and Genomics criteria were employed to assess the identified variations. Two novel variants, including a copy number variant (CNV) in exons seven and eight, an in-frame indel (c.309_310delTGinsGC), and seven previously reported variants were introduced during this study.

conclusionsThis insight improves our understanding of the TMC1 gene’s genotype-phenotype association, which is important for auditory function and gene-targeted therapy, while providing novel concepts for future therapeutics of the TMC1 gene.

Indexed as

Hearing LossMembrane ProteinsAdolescentAdultChildDNA Copy Number VariationsExome SequencingExonsFemaleGenetic Association StudiesHumansIranMaleMutationPedigreeMembrane ProteinsTMC1 protein, humanCNVDFNB7/11Hearing lossMechanotransductionTMC1Whole-exome sequencing

Identifiers

PMID41231290

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