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Background <p>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 <i>TMC1</i> are recognized as the etiological factors for both autosomal dominant and recessive non-syndromic hearing loss. We present 10 independent families with <i>TMC1</i> mutations from an Iranian cohort of individuals with hearing loss.</p> Methods and results <p>Whole-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.</p> Conclusions <p>This insight improves our understanding of the <i>TMC1</i> gene’s genotype-phenotype association, which is important for auditory function and gene-targeted therapy, while providing novel concepts for future therapeutics of the <i>TMC1</i> gene.</p>

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

  • 期刊论文

  • 发表日期：

    2025年11月13日

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

摘要

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 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 results

Whole-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.

Conclusions

This 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.