ArticleHuman genetics2022
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Article in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 44 citations in OpenAlex.
- Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?Clinical genetics · 2026Article
- Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy.Molecular genetics & genomic medicine · 2026Article
- A Novel Pathogenic Haplotype inBalkan medical journal · 2026Article
- Cadherin-23 mutations cause calcium-dependent, allele-sensitive mechanosensory defects.iScience · 2026Article
- Multitarget protection by Chinese herbal medicines against sensorineural hearing loss: a focus on oxidative stress, apoptosis, and inflammation.Frontiers in medicine · 2026Review
- Two Novel Compound HeterozygousInternational journal of general medicine · 2026Article
- First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss.BMC medical genomics · 2025Article
- Do variants in the CDH23 gene cause non-syndromic retinitis pigmentosa? Dual validation using whole exome sequencing and a zebrafish model.BMJ open ophthalmology · 2025Article
- Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.Molecular biology reports · 2025Article
- Discovering the pathogenesis of a VUS variant in CDH23 associated with sensorineural hearing loss in an Iranian family.Molecular biology reports · 2025Article
- Review
- POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments.European journal of human genetics : EJHG · 2025Article
- From genomic discovery to application in age-related hearing loss: a global bibliometric and cross-ethnic analysis.Frontiers in aging neuroscience · 2025Article
- Whole-genome sequencing to identify rare variants in East Asian patients with dementia with Lewy bodies.npj aging · 2024Article
- Segregation of Trans Mutations in theGenes · 2024Article
- Molecular evolution of toothed whale genes reveals adaptations to echolocating in different environments.BMC genomics · 2024Article
- Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.The journal of international advanced otology · 2024Article
- CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.Investigative ophthalmology & visual science · 2024Article
- Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.Scientific reports · 2024Article
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4 authors at 1 institution in 1 country.
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Abstract
Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non-syndromic hearing loss (DFNB12). Our series of studies demonstrated that CDH23 variants cause a broad range of phenotypes of non-syndromic hearing loss (DFNB12); from congenital profound hearing loss to late-onset high-frequency-involved progressive hearing loss. In this study, based on the genetic and clinical data from more than 10,000 patients, the mutational spectrum, clinical characteristics and genotype/phenotype correlations were evaluated. The present results reconfirmed that the variants in CDH23 are an important cause of non-syndromic sensorineural hearing loss. In addition, we showed that the mutational spectrum in the Japanese population, which is probably representative of the East Asian population in general, as well as frequent CDH23 variants that might be due to some founder effects. The present study demonstrated CDH23 variants cause a broad range of phenotypes, from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. Genotype (variant combinations) and phenotype (association with retinal pigmentosa, onset age) are shown to be well correlated and are thought to be related to the residual function defined by the CDH23 variants.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.