ArticleAmerican journal of human genetics2002
A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.BMC genetics · 2005Pooled it
- Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- Integrative Genomic Mapping and Visualization From Curated Public Datasets Reveals Germline RB1 Variant Diversity in Retinoblastoma.Investigative ophthalmology & visual science · 2026Article
- Revisiting low penetrance retinoblastoma: an integrated clinical, genetic, and bioinformatic analysis.Human molecular genetics · 2026Article
- Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical Practice.Genes · 2025Review
- Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastoma.JCI insight · 2024Article
- Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.Annals of oncology : official journal of the European Society for Medical Oncology · 2022Review
- Parental Origin of theCancers · 2021Article
- Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma.Cancers · 2021Article
- Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements DisruptingCancers · 2021Article
- Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.European journal of human genetics : EJHG · 2018Article
- Spectrum of germlineMolecular vision · 2018Article
- Heterogeneity in retinoblastoma: a tale of molecules and models.Clinical and translational medicine · 2017Review
- Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.Human genetics · 2017Article
- Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.PloS one · 2017Article
- A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.PLoS genetics · 2016Article
- "Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma".Clinical epigenetics · 2016Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- Article
- More epigenetic hits than meets the eye: microRNAs and genes associated with the tumorigenesis of retinoblastoma.Frontiers in genetics · 2012Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have identified a splice-site mutation (IVS6+1G-->T) in the RB1 gene, in two unrelated families with incomplete-penetrance retinoblastoma. Analysis of RNA from white blood cells showed that this mutation causes skipping of exon 6. Although this deletion results in a frameshift, most carriers of the mutation did not develop retinoblastoma. Interestingly, the relative abundance of the resultant nonsense messenger RNA varies between members of the same family and is either similar to or considerably lower than the transcript level of the normal allele. Moreover, variation of relative transcript levels is associated with both the sex of the parent that transmitted the mutant allele and phenotypic expression: All eight carriers with similar abundance of nonsense and normal transcript have received the mutant allele from their mother, and only one of them has developed retinoblastoma; by contrast, all eight carriers with reduced abundance of the nonsense transcript have received the mutant allele from their father, and all but two them have retinoblastoma. After treatment with cycloheximide, the relative abundance of transcripts from paternally inherited mutant alleles was partly restored, thus indicating that posttranscriptional mechanisms, rather than transcriptional silencing, are responsible for low levels of mutant messenger RNA. Our data suggest that a specific RB1 mutation can be associated with differential penetrance, on the basis of the sex of the transmitting parent.
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Registered trials
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