ArticleJournal of genetics2009
A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma.
Article in Journal of genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.Molecular and clinical oncology · 2021Article
- Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.Familial cancer · 2018Article
- Structural changes of the macula and optic nerve head in the remaining eyes after enucleation for retinoblastoma: an optical coherence tomography study.BMC ophthalmology · 2017Article
- Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: protocol for a systematic review.Systematic reviews · 2017Article
- Genetic screening in Iranian patients with retinoblastoma.Eye (London, England) · 2017Article
- Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene.Journal of human genetics · 2016Article
- Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.Molecular vision · 2016Article
- A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients.Journal of human genetics · 2015Article
- Rapid detection of RB1 recurrent mutations in retinoblastoma by ARMS-PCR.Journal of genetics · 2013Article
- Genetics of primary intraocular tumors.Ocular immunology and inflammation · 2012Review
- Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.Journal of biosciences · 2011Article
- Orbital retinoblastoma: Present status and future challenges - A review.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2011Article
- Epidemiology and Rb1 gene of retinoblastoma.International journal of ophthalmology · 2011Article
- Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.Molecular vision · 2011Article
- RB1 gene mutations in retinoblastoma and its clinical correlation.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2010Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinoblastoma (Rb) is the most common primary intraocular malignancy in children. It is brought about by the mutational inactivation of both alleles of RB1 gene in the developing retina. To identify the RB1 mutations, we analysed 74 retinoblastoma patients by screening the exons and the promoter region of RB1. The strategy used was to detect large deletions/duplications by fluorescent quantitative multiplex PCR; small deletions/insertions by fluorescent genotyping of RB1 alleles, and point mutations by PCR-RFLP and sequencing. Genomic DNA from the peripheral blood leucocytes of 74 Rb patients (53 with bilateral Rb, 21 with unilateral Rb; 4 familial cases) was screened for mutations. Recurrent mutations were identified in five patients with bilateral Rb, large deletions in 11 patients (nine with bilateral Rb and two with unilateral Rb), small deletions/insertions were found in 12 patients all with bilateral Rb, and point mutations in 26 patients (14 nonsense, six splice site, five substitution and one silent change). Three mutations were associated with variable expressivity of the disease in different family members. Using this method, the detection rates achieved in patients with bilateral Rb were 44/53 (83%) and with unilateral Rb, 5/21 (23.8%). This approach may be feasible for clinical genetic testing and counselling of patients.
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