ArticleEuropean journal of human genetics : EJHG2015
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 63 citations in OpenAlex.
- Article
- Novel candidate genes for vestibular function identified through GWAS in the hybrid mouse diversity panel.BMC genomics · 2026Article
- A novel MYO6 variant identified in a Chinese family with autosomal dominant non-syndromic hearing loss.BMC medical genomics · 2026Article
- Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family.Molecular genetics & genomic medicine · 2026Article
- The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia.Journal of human genetics · 2026Article
- Protocadherin 20 Is a POU Class 2 Homeobox 3 Target Gene Required for Proper Tuft Cell Microvillus Organization.Cellular and molecular gastroenterology and hepatology · 2026Article
- Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.Molecular biology reports · 2025Article
- AAV gene therapy rescues hearing and balance in a model of CLIC5 deafness.EMBO molecular medicine · 2025Article
- Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.Journal of clinical medicine · 2024Article
- Critical role of TPRN rings in the stereocilia for hearing.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- A novel role for the chloride intracellular channel protein Clic5 in ciliary function.Scientific reports · 2023Article
- cdh23 affects congenital hearing loss through regulating purine metabolism.Frontiers in molecular neuroscience · 2023Article
- Article
- Modelling inner ear development and disease using pluripotent stem cells - a pathway to new therapeutic strategies.Disease models & mechanisms · 2022Review
- RIPOR2-mediated autophagy dysfunction is critical for aminoglycoside-induced hearing loss.Developmental cell · 2022Article
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- Genetics of Hearing Impairment.Genes · 2022Article
- Article
- Cell-based analysis ofFrontiers in genetics · 2022Article
- Development and evolution of the vestibular apparatuses of the inner ear.Journal of anatomy · 2021Review
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous region of 47.4 Mb was shared by the two affected siblings on chromosome 6p21.1-q15. This region contains 247 genes including the known deafness gene MYO6. No pathogenic variants were found in MYO6, neither with sequence analysis of the coding region and splice sites nor with mRNA analysis. Subsequent candidate gene evaluation revealed CLIC5 as an excellent candidate gene. The orthologous mouse gene is mutated in the jitterbug mutant that exhibits progressive hearing impairment and vestibular dysfunction. Mutation analysis of CLIC5 revealed a homozygous nonsense mutation c.96T>A (p.(Cys32Ter)) that segregated with the hearing loss. Further analysis of CLIC5 in 213 arNSHI patients from mostly Dutch and Spanish origin did not reveal any additional pathogenic variants. CLIC5 mutations are thus not a common cause of arNSHI in these populations. The hearing loss in the present family had an onset in early childhood and progressed from mild to severe or even profound before the second decade. Impaired hearing is accompanied by vestibular areflexia and in one of the patients with mild renal dysfunction. Although we demonstrate that CLIC5 is expressed in many other human tissues, no additional symptoms were observed in these patients. In conclusion, our results show that CLIC5 is a novel arNSHI gene involved in progressive hearing impairment, vestibular and possibly mild renal dysfunction in a family of Turkish origin.
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