ArticleHuman molecular genetics2009
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01650142 (Study of the Neurofibromatosis 1 Expression), which is not on this map. Cited by 74 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Study of the Neurofibromatosis 1 Expression: Identification of the Modifying Genes
Who cites it
74 citing papers in PubMed, 1 synthesis or guideline pooled it, 142 citations in OpenAlex.
- Bone Mineral Density in Neurofibromatosis Type 1: A Systematic Review and Meta-Analysis.Calcified tissue international · 2023Pooled it
- Relation Between Genotype and Behavioral Phenotype in Children and Adolescents With Neurofibromatosis Type 1.JAACAP open · 2026Article
- Decreased PP2A expression and activity represent a therapeutic target for plexiform neurofibroma.Acta neuropathologica communications · 2026Article
- Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Orphanet journal of rare diseases · 2026Review
- Refined genotype-phenotype correlations in neurofibromatosis type 1 patients withJournal of medical genetics · 2025Article
- Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2.Epigenomes · 2025Review
- A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.Nature communications · 2025Article
- Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.NPJ genomic medicine · 2024Article
- A platform for rapid patient-derived cutaneous neurofibroma organoid establishment and screening.Cell reports methods · 2024Article
- Genotype-phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort.Journal of neurology · 2024Article
- Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.Neurogenetics · 2024Review
- PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants.Nature communications · 2023Article
- A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.Cancers · 2022Article
- Cancer and Radiosensitivity Syndromes: Is Impaired Nuclear ATM Kinase Activity the Primum Movens?Cancers · 2022Review
- Early Developmental Trajectories in Infants With Neurofibromatosis 1.Frontiers in psychology · 2022Article
- Individual Response to Radiation of Individuals with Neurofibromatosis Type I: Role of the ATM Protein and Influence of Statins and Bisphosphonates.Molecular neurobiology · 2022Article
- Co-occurrence of mutations inFrontiers in endocrinology · 2022Article
- Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.Genes, chromosomes & cancer · 2022Article
- Predictive Modeling for Clinical Features Associated With Neurofibromatosis Type 1.Neurology. Clinical practice · 2021Article
- Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research.Neurology · 2021Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 6 institutions in 1 country.
Funding
Abstract
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. To evaluate the genetic component of variable expressivity in NF1, we examined the phenotypic correlations between affected relatives in 750 NF1 patients from 275 multiplex families collected through the NF-France Network. Twelve NF1-related clinical features, including five quantitative traits (number of café-au-lait spots of small size and of large size, and number of cutaneous, subcutaneous and plexiform neurofibromas) and seven binary ones, were scored. All clinical features studied, with the exception of neoplasms, showed significant familial aggregation after adjusting for age and sex. For most of them, patterns of familial correlations indicated a strong genetic component with no apparent influence of the constitutional NF1 mutation. Heritability estimates of the five quantitative traits ranged from 0.26 to 0.62. Moreover, we investigated for the first time the role of the normal NF1 allele in the variable expression of NF1 through a family-based association study. Nine tag SNPs in NF1 were genotyped in 1132 individuals from 313 NF1 families. No significant deviations of transmission of any of the NF1 variants to affected offspring was found for any of the 12 clinical features examined, based on single marker or haplotype analysis. Taken together, our results provided evidence that genetic modifiers, unlinked to the NF1 locus, contribute to the variable expressivity of the disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.