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<p>Mouse models are relevant to study functionality of genes involved in human hearing and vestibular disorders; however, other pre-clinical models including organoids could be more suitable depending on the gene and its homology across species. While some mouse models replicate human hearing phenotypes, models for vestibular disorders like Meniere Disease (MD) are lacking. We aimed to identify genes associated with auditory and vestibular phenotypes (AVP) in humans and mice to prioritize candidate genes for further MD research. A systematic review was conducted extracting data from PubMed, Scopus, the International Mouse Phenotyping Consortium (IMPC), and the Deafness Variation Database (DVD). We included studies reporting AVP linked to genetic variants in human, mice or both. A total of 31 interspecies auditory phenotype genes shared between the IMPC and DVD, of which 25 were expressed in both cochlear and vestibular tissues. Five were prioritized as AVP candidates—<i>CIB2, COL9A2, CLRN1, GRXCR1, MARVELD2</i>. IMPC screening also revealed 52 mouse hearing loss genes, several with strong cochlear and vestibular expression not previously described. Integrating phenotypic and expression data highlighted <i>NIN, CCDC88C, OTOG, CLRN1, GRXCR1,</i> and <i>MARVELD2</i> as promising candidates for MD. Vestibular phenotyping is underrepresented in current KO mouse models, as vestibular function is not systematically tested in the IMPC pipeline, leading to incomplete annotation of vestibular phenotypes. Comprehensive vestibular assessments in IMPC pipelines and targeted vestibular phenotype evaluation of individuals with rare variants in DVD genes are essential to advance translational vestibular research.</p>

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Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年12月22日

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  • Cedra Ayoub,
  • Saihamsini Paladugu,
  • Nikita Nikitenko,
  • Jose A. Lopez-Escamez

摘要

Mouse models are relevant to study functionality of genes involved in human hearing and vestibular disorders; however, other pre-clinical models including organoids could be more suitable depending on the gene and its homology across species. While some mouse models replicate human hearing phenotypes, models for vestibular disorders like Meniere Disease (MD) are lacking. We aimed to identify genes associated with auditory and vestibular phenotypes (AVP) in humans and mice to prioritize candidate genes for further MD research. A systematic review was conducted extracting data from PubMed, Scopus, the International Mouse Phenotyping Consortium (IMPC), and the Deafness Variation Database (DVD). We included studies reporting AVP linked to genetic variants in human, mice or both. A total of 31 interspecies auditory phenotype genes shared between the IMPC and DVD, of which 25 were expressed in both cochlear and vestibular tissues. Five were prioritized as AVP candidates—CIB2, COL9A2, CLRN1, GRXCR1, MARVELD2. IMPC screening also revealed 52 mouse hearing loss genes, several with strong cochlear and vestibular expression not previously described. Integrating phenotypic and expression data highlighted NIN, CCDC88C, OTOG, CLRN1, GRXCR1, and MARVELD2 as promising candidates for MD. Vestibular phenotyping is underrepresented in current KO mouse models, as vestibular function is not systematically tested in the IMPC pipeline, leading to incomplete annotation of vestibular phenotypes. Comprehensive vestibular assessments in IMPC pipelines and targeted vestibular phenotype evaluation of individuals with rare variants in DVD genes are essential to advance translational vestibular research.