ArticleMolecular vision2012
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids.CNS neuroscience & therapeutics · 2026Article
- Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Clinical genetics · 2026Article
- Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.Human genetics · 2022Review
- A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.Human genetics · 2021Article
- Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.Molecular genetics & genomic medicine · 2020Article
- Genetic Screening of the Usher Syndrome in Cuba.Frontiers in genetics · 2019Article
- Unilateral retinitis pigmentosa occurring in an individual with a mutation in theBMJ case reports · 2018Article
- Strategies for genetic study of hearing loss in the Brazilian northeastern region.International journal of molecular epidemiology and genetics · 2014Article
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the genetic defect in Spanish families with Usher syndrome (USH) and probable involvement of the CLRN1 gene.
methodsDNA samples of the affected members of our cohort of USH families were tested using an USH genotyping array, and/or genotyped with polymorphic markers specific for the USH3A locus. Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17 patients susceptible to carrying mutations in this gene.
resultsMicroarray analysis revealed the previously reported mutation p.Y63X in two unrelated patients, one of them homozygous for the mutation. After CLRN1 sequencing, we found two novel mutations, p.R207X and p.I168N. Both novel mutations segregated with the phenotype.
conclusionsTo date, 18 mutations in CLRN1 have been reported. In this work, we report two novel mutations and a third one previously identified in the Spanish USH sample. The prevalence of CLRN1 among our patients with USH is low.
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23304067PMC3538041W2132489734What OpenQuestion holds
Registered trials
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