ArticleAmerican journal of human genetics2001
Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 38 citations in OpenAlex.
- Buffering of genetic dominance by allele-specific protein complex assembly.Science advances · 2023Article
- Segmental spinal neurofibromatosis 1: a novel phenotype.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Review
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.Cancers · 2021Article
- Next-generation sequencing identifies rare variants associated with Noonan syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.Neurogenetics · 2011Article
- The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.Neurogenetics · 2009Article
- Altered calcium-mediated cell signaling in keratinocytes cultured from patients with neurofibromatosis type 1.The American journal of pathology · 2002Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal neurofibromatosis (SNF) is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors and café-au-lait macules. Involvement of the neurofibromatosis type 1 (NF1) locus has been demonstrated, by linkage analysis, for three families with SNF. In one of them, a cosegregating frameshift mutation in exon 46 of the NF1 gene was identified. In the present study, we report four individuals from two families who carry NF1 null mutations that would be expected to cause NF1. Three patients have multiple spinal tumors and no café-au-lait macules, and the fourth has no clinical signs of NF1. In the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was found, and, in the second, a splice-site mutation (IVS31-5A-->G) enlarging exon 32 by 4 bp at the 5' end was found. The latter mutation has also been observed in an unrelated patient with classical NF1. Both NF1 mutations cause a reduction in neurofibromin of approximately 50%, with no truncated protein present in the cells. This demonstrates that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria for SNF. We speculate that this phenotype is caused by an unknown modifying gene that compensates for some, but not all, of the effects caused by neurofibromin deficiency.
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