ArticleAmerican journal of human genetics2005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 151 citations in OpenAlex.
- Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.Journal of medical genetics · 2025Pooled it
- Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2007Guideline
- Unraveling a Genetic Puzzle: CouldJournal of clinical research in pediatric endocrinology · 2026Article
- Diagnoses of double heterozygous NF1 variants and dual RASopathy.Molecular and cellular pediatrics · 2026Review
- Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.Scientific reports · 2025Article
- Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.Orphanet journal of rare diseases · 2025Review
- Allosteric modulation of NF1 GAP: Differential distributions of catalytically competent populations in loss-of-function and gain-of-function mutants.Protein science : a publication of the Protein Society · 2025Article
- Phenotypic Expansion of Autosomal DominantGenes · 2024Review
- A Novel HeterozygousJournal of clinical research in pediatric endocrinology · 2023Article
- Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1.BMC medical genomics · 2023Article
- Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.Cancers · 2023Review
- LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.BMC medical genomics · 2022Review
- RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.The application of clinical genetics · 2022Article
- Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2021Article
- SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.American journal of human genetics · 2021Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.Cancers · 2021Article
- Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report.BMC pediatrics · 2020Article
- A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External GenitaliaJournal of clinical research in pediatric endocrinology · 2020Article
- Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review.Molecular genetics & genomic medicine · 2020Review
- Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.Human mutation · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 8 institutions in 3 countries.
Funding
Abstract
Neurofibromatosis type 1 (NF1) demonstrates phenotypic overlap with Noonan syndrome (NS) in some patients, which results in the so-called neurofibromatosis-Noonan syndrome (NFNS). From a genetic point of view, NFNS is a poorly understood condition, and controversy remains as to whether it represents a variable manifestation of either NF1 or NS or is a distinct clinical entity. To answer this question, we screened a cohort with clinically well-characterized NFNS for mutations in the entire coding sequence of the NF1 and PTPN11 genes. Heterozygous NF1 defects were identified in 16 of the 17 unrelated subjects included in the study, which provides evidence that mutations in NF1 represent the major molecular event underlying this condition. Lesions included nonsense mutations, out-of-frame deletions, missense changes, small inframe deletions, and one large multiexon deletion. Remarkably, a high prevalence of inframe defects affecting exons 24 and 25, which encode a portion of the GAP-related domain of the protein, was observed. On the other hand, no defect in PTPN11 was observed, and no lesion affecting exons 11-27 of the NF1 gene was identified in 100 PTPN11 mutation-negative subjects with NS, which provides further evidence that NFNS and NS are genetically distinct disorders. These results support the view that NFNS represents a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals.
Indexed as
Identifiers
What OpenQuestion holds
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.