ArticleJournal of medical genetics2013
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
Article in Journal of medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2018Guideline
- Review
- Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.Neurology · 2021Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.Cancers · 2021Article
- The value of screening tests in children with neurofibromatosis type 1 (NF1).Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.American journal of human genetics · 2018Article
- 126 novel mutations in Italian patients with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2015Article
- Update from the 2013 International Neurofibromatosis Conference.American journal of medical genetics. Part A · 2014Article
- Intronic splicing mutations in PTCH1 cause Gorlin syndrome.Familial cancer · 2014Article
- A Patient with Noonan Syndrome with aCase reports in neurologyArticle
Corrections and comments
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Authors and funding
9 authors at 8 institutions in 3 countries.
Funding
Abstract
backgroundConsensus clinical diagnostic criteria for neurofibromatosis type I (NF1) include café-au-lait macules and skinfold freckling. The former are frequently the earliest manifestation of NF1, and as such are of particular significance when assessing young children at risk of the condition. A phenotype of predominantly spinal neurofibromatosis has been identified in a small minority of families with NF1, often in association with a relative or absolute lack of cutaneous manifestations. An association with splicing and missense mutations has previously been reported for spinal neurofibromatosis, but on the basis of molecular results in only a few families.
methodPatients with spinal NF1 were identified through the Manchester nationally commissioned service for complex NF1.
resultsFive families with spinal NF1 were identified, with a broad spectrum of NF1 mutations, providing further evidence that this phenotype may arise in association with any genre of mutation in this gene. Pigmentary manifestations were absent or very mild in affected individuals. Several further affected individuals, some with extensive spinal root tumours, were ascertained when additional family members were assessed.
conclusionsClinical NF1 consensus criteria cannot be used to exclude the diagnosis of spinal NF1, especially in childhood. This emphasises the importance of molecular confirmation in individuals and families with atypical presentations of NF1.
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