ReviewHuman genetics2017
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
Review in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers.
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Who cites it
116 citing papers in PubMed.
- Relation Between Genotype and Behavioral Phenotype in Children and Adolescents With Neurofibromatosis Type 1.JAACAP open · 2026Article
- One Clinical Picture, Two Clinical Entities: A Case Report and Literature Review of Neurofibromatosis and Hemochromatosis.Children (Basel, Switzerland) · 2026Article
- Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.World journal of pediatrics : WJP · 2026Article
- Article
- Café-au-lait macules in a cohort of Greek children genetically diagnosed with neurofibromatosis type 1: Prognostic significance beyond their diagnostic relevance.Dermatology online journal · 2026Article
- Neurofibromin 1 (International journal of molecular sciences · 2026Article
- The spectrum of pathogenic NF1 variants in participants enrolling on clinical trials of MEK inhibitors for plexiform neurofibroma.Human genetics · 2025Article
- Expanding the Genetic Landscape of RASopathies: Significance of IncludingMolecular syndromology · 2025Article
- Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.Familial cancer · 2025Review
- Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.Molecular syndromology · 2025Article
- Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details onDiagnostics (Basel, Switzerland) · 2025Article
- Accounting for Biological Sex and Gender Identity in the Pathogenesis, Artistic Depictions, and Quality of Life in Neurofibromatosis Type 1.JID innovations : skin science from molecules to population health · 2025Review
- Rare variants modulating phenotype in NF1 carriers.Scientific reports · 2025Article
- Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis.Pain reports · 2025Article
- Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.Orphanet journal of rare diseases · 2025Article
- Review
- Article
- Gastric gastrointestinal stromal tumor in a patient with neurofibromatosis type I presenting with anemia: A case report.World journal of gastrointestinal oncology · 2025Article
- Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.Biomedicines · 2025Article
- Bibliometric Analysis of Global Research on Cafe-Au-Lait Macules from 2000 to 2025: Development, Collaboration Patterns, and Emerging Trends.Clinical, cosmetic and investigational dermatology · 2025Article
56 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germline type-1 NF1 microdeletions frequently exhibit dysmorphic facial features, overgrowth/tall-for-age stature, significant delay in cognitive development, large hands and feet, hyperflexibility of joints and muscular hypotonia. Such patients also display significantly more cardiovascular anomalies as compared with patients without large deletions and often exhibit increased numbers of subcutaneous, plexiform and spinal neurofibromas as compared with the general NF1 population. Further, an extremely high burden of internal neurofibromas, characterised by >3000 ml tumour volume, is encountered significantly, more frequently, in non-mosaic NF1 microdeletion patients than in NF1 patients lacking such deletions. NF1 microdeletion patients also have an increased risk of malignant peripheral nerve sheath tumours (MPNSTs); their lifetime MPNST risk is 16-26%, rather higher than that of NF1 patients with intragenic NF1 mutations (8-13%). NF1 microdeletion patients, therefore, represent a high-risk group for the development of MPNSTs, tumours which are very aggressive and difficult to treat. Co-deletion of the SUZ12 gene in addition to NF1 further increases the MPNST risk in NF1 microdeletion patients. Here, we summarise current knowledge about genotype-phenotype relationships in NF1 microdeletion patients and discuss the potential role of the genes located within the NF1 microdeletion interval whose haploinsufficiency may contribute to the more severe clinical phenotype.
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