<p>Hearing loss is a prevalent sensory disorder that affects millions globally, with genetic factors playing a pivotal role in its etiology. Over 150 genes have been identified as contributors to hereditary hearing loss, which manifests as syndromic or nonsyndromic forms. While autosomal recessive inheritance dominates non-syndromic cases, autosomal dominant, X-linked, and mitochondrial patterns also contribute significantly. Key genes, such as GJB2, TMC1, and MYO7A, are highlighted for their mechanistic roles in auditory function and pathology. Cutting-edge techniques, including next-generation sequencing and CRISPR-Cas9 gene editing, have revolutionized our understanding of genotype–phenotype correlations and hold promises for targeted therapies. This article aims to review the recent literature assessing the common causes of genetic hearing loss globally as well as the complex genetic foundations of hearing loss, emphasizing advances in genomic technologies and their implications for diagnosis, management, and future therapeutic interventions. By integrating insights from molecular genetics, otolaryngology, and bioinformatics, this article provides a comprehensive perspective on the genetics of hearing loss and identifies avenues for personalized medicine in auditory healthcare.</p>

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Genetic Foundations of Hearing Loss: A Comprehensive Review

  • A. Akansha,
  • Ashish Chandra Agarwal

摘要

Hearing loss is a prevalent sensory disorder that affects millions globally, with genetic factors playing a pivotal role in its etiology. Over 150 genes have been identified as contributors to hereditary hearing loss, which manifests as syndromic or nonsyndromic forms. While autosomal recessive inheritance dominates non-syndromic cases, autosomal dominant, X-linked, and mitochondrial patterns also contribute significantly. Key genes, such as GJB2, TMC1, and MYO7A, are highlighted for their mechanistic roles in auditory function and pathology. Cutting-edge techniques, including next-generation sequencing and CRISPR-Cas9 gene editing, have revolutionized our understanding of genotype–phenotype correlations and hold promises for targeted therapies. This article aims to review the recent literature assessing the common causes of genetic hearing loss globally as well as the complex genetic foundations of hearing loss, emphasizing advances in genomic technologies and their implications for diagnosis, management, and future therapeutic interventions. By integrating insights from molecular genetics, otolaryngology, and bioinformatics, this article provides a comprehensive perspective on the genetics of hearing loss and identifies avenues for personalized medicine in auditory healthcare.