ArticleOrphanet journal of rare diseases2015
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2019Pooled it
- Rationally Designed TadA-Derived Cytosine Editors Enable Context-Independent Zebrafish Genome Editing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Genetic resonance: dissecting the heritability and genetic correlations of human hearing acuity.G3 (Bethesda, Md.) · 2025Article
- Exploring force-driven stochastic folding dynamics in mechano-responsive proteins and implications in phenotypic variation.Nature communications · 2025Article
- Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.Scientific reports · 2024Article
- The Addis Ababa Lions: Whole-Genome Sequencing of a Rare and Precious Population.Genome biology and evolution · 2024Article
- 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.Human genetics · 2022Article
- Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.Journal of pediatric genetics · 2022Review
- Weakening of interaction networks with aging in tip-link protein induces hearing loss.The Biochemical journal · 2021Article
- Identification of NovelGenes · 2020Article
- Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.Molecular biology reports · 2020Article
- Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.Molecular genetics & genomic medicine · 2020Article
- Using Sox2 to alleviate the hallmarks of age-related hearing loss.Ageing research reviews · 2020Review
- High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma.Genes · 2020Article
- Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.PLoS genetics · 2020Article
- Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.Frontiers in genetics · 2020Review
- Aberrant Splicing Events Associated toGenes · 2019Article
- Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.BMC medical genomics · 2019Article
- Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss.Neural plasticity · 2018Article
- Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.PloS one · 2016Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in CDH23 are responsible for Usher syndrome 1D and recessive non-syndromic hearing loss. In this study, we revealed the prevalence of CDH23 mutations among patients with specific clinical characteristics.
methodsAfter excluding patients with GJB2 mutations and mitochondrial m.1555A > G and m.3243A > G mutations, subjects for CDH23 mutation analysis were selected according to the following criteria: 1) Sporadic or recessively inherited hearing loss 2) bilateral non-syndromic congenital hearing loss, 3) no cochlear malformation, 4) a poorer hearing level at high frequencies than at low frequencies, and 5) severe or profound hearing loss at higher frequencies.
resultsSeventy-two subjects were selected from 621 consecutive probands who did not have environmental causes for their hearing loss. After direct sequencing, 13 of the 72 probands (18.1%) had homozygous or compound heterozygous CDH23 mutations. In total, we identified 16 CDH23 mutations, including five novel mutations. The 16 mutations included 12 missense, two frameshift, and two splice-site mutations.
conclusionsThese results revealed that CDH23 mutations are highly prevalent in patients with congenital high-frequency sporadic or recessively inherited hearing loss and that the mutation spectrum was diverse, indicating that patients with these clinical features merit genetic analysis.
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