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Article

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

Molecular biology reports - 13 Nov 2025

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

Abstract excerpt

BACKGROUND: Transmembrane 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...

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Identifiers

PMID: 41231290
DOI: 10.1007/s11033-025-11234-3

Genes

TMC1

Variants

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Genetic and clinical aspects of TMC1-related hearing loss in Iranian families: identification of two novel variants.PMID 41231290Read ↗

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Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.Semantic proximity Read ↗

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

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Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.Semantic proximity Read ↗

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.Semantic proximity Read ↗

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Identification of novel gene variants causing autosomal recessive non-syndromic hearing loss in Iranian familiesSemantic proximity Read ↗

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