ArticleMolecular vision2011
Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.Cancer medicine · 2025Article
- Mutational analysis of theFrontiers in medicine · 2024Article
- Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.International ophthalmology · 2022Article
- Retinoblastoma genetics screening and clinical management.BMC medical genomics · 2021Article
- The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.Risk management and healthcare policy · 2021Article
- A Review of Cancer Genetics and Genomics Studies in Africa.Frontiers in oncology · 2020Review
- Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.Familial cancer · 2018Article
- Mutational screening of germlineMolecular vision · 2018Article
- Genetic screening in Iranian patients with retinoblastoma.Eye (London, England) · 2017Article
- Increased incidence and disparity of diagnosis of retinoblastoma patients in Guatemala.Cancer letters · 2014Article
- Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification.Molecular vision · 2013Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeRetinoblastoma (RB), the most common intraocular tumor occurring in infancy and early childhood, is most often related to mutations in the RB1 gene. In this study, we screened the RB1 germline mutations in 41 unrelated Moroccan patients with retinoblastoma, 25 heritable cases, and 16 sporadic unilateral cases.
methodsAfter complete ophthalmic examinations were performed and consent obtained, DNA was extracted from peripheral blood, and screening of RB1 mutations was performed with PCR direct sequencing of the promoter and the 27 coding exons of the RB1 gene.
resultsWe identified ten germline mutations in 10/41 (24.39%) unrelated patients, among which three had not been previously reported. The mutation detection rate was 40% (10/25) in the heritable cases and 0% (0/16) in the sporadic unilateral cases. Of these mutations, six were nonsense, and three were frameshifts, all associated with severe phenotypes resulting in bilateral and multifocal tumors. One splice site mutation was found in a familial case associated with a low expressivity phenotype resulting in unilateral and unifocal tumors. Moreover, eight intronic variants were identified, three of which were novel.
conclusionsThis first report of RB1 gene screening in Moroccan patients with retinoblastoma shows a comparable mutational spectrum to those reported previously, which has evident importance for managing patients with retinoblastoma and their families.
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Identifiers
22219649PMC3250372W1528821889What OpenQuestion holds
Registered trials
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