ArticleScientific reports2015
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Gene-Environment Interaction Loci Associated with Refractive Error: SCAMPI Analysis.Ophthalmology science · 2026Article
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- Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Clinical Phenotypes ofGenes · 2022Article
- Aqueous Humor Proteomic Alterations Associated with Visual Field Index Parameters in Glaucoma Patients: A Pilot Study.Journal of clinical medicine · 2021Article
- Novel mutations inInternational journal of ophthalmology · 2021Article
- Retinoids in the visual cycle: role of the retinal G protein-coupled receptor.Journal of lipid research · 2021Review
- Genetic spectrum of retinal dystrophies in Tunisia.Scientific reports · 2020Article
- Proteasome-Mediated Regulation of Cdhr1a by Siah1 Modulates Photoreceptor Development and Survival in Zebrafish.Frontiers in cell and developmental biology · 2020Article
- Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.Investigative ophthalmology & visual science · 2019Article
- A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.Journal of cellular and molecular medicine · 2018Article
- CDHR1 mutations in retinal dystrophies.Scientific reports · 2017Article
- Dry age-related macular degeneration like pathology in aged 5XFAD mice: Ultrastructure and microarray analysis.Oncotarget · 2017Article
- Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Scientific reports · 2017Article
- Molecular basis for photoreceptor outer segment architecture.Progress in retinal and eye research · 2016Review
- Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.Journal of human genetics · 2016Article
- Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients' molecular and clinical diagnoses. In this study, we wanted to clinically characterize and investigate the molecular etiology of an atypical form of autosomal recessive retinal dystrophy in two consanguineous Spanish families. Affected members of the respective families exhibited an array of clinical features including reduced visual acuity, photophobia, defective color vision, reduced or absent ERG responses, macular atrophy and pigmentary deposits in the peripheral retina. Genetic investigation included autozygosity mapping coupled with exome sequencing in the first family, whereas autozygome-guided candidate gene screening was performed by means of Sanger DNA sequencing in the second family. Our approach revealed nucleotide changes in CDHR1; a homozygous missense variant (c.1720C>G, p.P574A) and a homozygous single base transition (c.1485+2T>C) affecting the canonical 5' splice site of intron 13, respectively. Both changes co-segregated with the disease and were absent among cohorts of unrelated control individuals. To date, only five mutations in CDHR1 have been identified, all resulting in premature stop codons leading to mRNA nonsense mediated decay. Our work reports two previously unidentified homozygous mutations in CDHR1 further expanding the mutational spectrum of this gene.
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