ArticleOrphanet journal of rare diseases2013
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 74 citations in OpenAlex.
- Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.PloS one · 2018Trial
- Genotype-phenotype correlations in retinitis pigmentosa: structural and vascular insights using OCT and OCTA.International journal of retina and vitreous · 2026Article
- Novel Genotype-Phenotype Correlations inOphthalmology science · 2026Article
- The Specific Pathogenicity Pattern of the DifferentInternational journal of molecular sciences · 2025Article
- Lego Self-Assembly Model of Zebrafish RGB Cone Pentamer Formation: Unique Role of Crumbs2b in Cone Coalescence via Planar Orientational Cell Adhesions.Investigative ophthalmology & visual science · 2025Article
- Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.International journal of molecular sciences · 2024Article
- Diverse functions and pathogenetic role of Crumbs in retinopathy.Cell communication and signaling : CCS · 2024Review
- Characterization and AAV-mediatedMolecular therapy. Methods & clinical development · 2023Article
- Systematic assessment of the contribution of structural variants to inherited retinal diseases.Human molecular genetics · 2023Article
- Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina.The Journal of pathology · 2023Article
- CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.American journal of ophthalmology · 2023Article
- A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.BMC medical genomics · 2022Review
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- New Editing Tools for Gene Therapy in Inherited Retinal Dystrophies.The CRISPR journal · 2022Review
- Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
- In Silico Analysis of PathogenicGenes · 2021Article
- Observational
- Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.Acta ophthalmologica · 2021Article
- Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.Translational vision science & technology · 2021Article
- Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.International journal of molecular sciences · 2021Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP) and cone-rod dystrophies. Comprehensive mutational scanning of the whole gene has been only performed in few cohorts, mainly in LCA patients. Here, we aimed investigating the real prevalence of CRB1 mutations in the Spanish population by extensive screening of CRB1 mutations in a large cohort of LCA and EORP cases.
methodsThis report integrates data from previous studies on CRB1 defects in our Spanish cohort of LCA and early-onset RP (EORP) with new findings from a comprehensive mutational screening of the whole gene. The molecular tools used include mutation genotyping arrays, whole-genome homozygosity mapping, an optimized high-resolution melting (HRM) analysis and Sanger sequencing.
resultsA large clinically well-characterized cohort of 404 Spanish cases was studied, 114 of which suffered from LCA and 290 from EORP. This study reveals that 11% of Spanish patients carried mutations in CRB1, ranging from 9% of EORP to 14% of LCA cases. More than three quarters of the mutations identified herein have been first described in this Spanish cohort, 13 of them are unreported new variants and 13 had been previously reported in our previous studies.
conclusionsThis work provides a wide spectrum of CRB1 mutations in the Spanish EORD patients and evidences the major role of CRB1 as causal gene in the Spanish EORP patients. It is noteworthy that a high rate of private mutations only described in our cohort has been found so far. To our knowledge, this study represents the most complete mutational screening of CRB1 in a Spanish LCA and EORP cohort, allowing us to establish gene-specific frequencies and to provide a wide spectrum of CRB1 mutations in the Spanish population.
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