ArticleAmerican journal of human genetics2007
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 162 citations in OpenAlex.
- Cutaneous Neurofibroma Heterogeneity: Factors that Influence Tumor Burden in Neurofibromatosis Type 1.The Journal of investigative dermatology · 2023Review
- Existing and Developing Preclinical Models for Neurofibromatosis Type 1-Related Cutaneous Neurofibromas.The Journal of investigative dermatology · 2023Review
- Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten NovelBalkan medical journal · 2023Article
- Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India.Scientific reports · 2023Article
- High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.Human mutation · 2022Article
- Superimposition of checkerboard distribution of ephelides and neurofibromas in a patient with segmental neurofibromatosis.JAAD case reports · 2022Article
- Review
- AtypicalGenes · 2021Review
- Cutaneous Findings in Neurofibromatosis Type 1.Cancers · 2021Review
- Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.Molecular genetics & genomic medicine · 2020Article
- NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation.Neuro-oncology advances · 2020Article
- Simultaneous Detection ofGenes · 2020Article
- Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma.Italian journal of pediatrics · 2020Article
- Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.Orphanet journal of rare diseases · 2019Article
- Spatiotemporal Loss ofCancer discovery · 2019Article
- IndependentNeurology. Genetics · 2018Article
- Development of an AmpliSeqFrontiers in pharmacology · 2018Article
- Diversity of actin architecture in human osteoclasts: network of curved and branched actin supporting cell shape and intercellular micrometer-level tubes.Molecular and cellular biochemistry · 2017Article
- Emerging genotype-phenotype relationships in patients with large NF1 deletions.Human genetics · 2017Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Elucidation of the biological framework underlying the development of neurofibromatosis type 1 (NF1)-related symptoms has proved to be difficult. Complicating factors include the large size of the NF1 gene, the presence of several NF1 pseudogenes, the complex interactions between cell types, and the NF1-haploinsufficient state of all cells in the body. Here, we investigate three patients with distinct NF1-associated clinical manifestations (neurofibromas only, pigmentary changes only, and association of both symptoms). For each patient, various tissues and cell types were tested with comprehensive and quantitative assays capable of detecting low-percentage NF1 mutations. This approach confirmed the biallelic NF1 inactivation in Schwann cells in neurofibromas and, for the first time, demonstrated biallelic NF1 inactivation in melanocytes in NF1-related cafe-au-lait macules. Interestingly, both disease features arise even within a background of predominantly NF1 wild-type cells. Together, the data provide molecular evidence that (1) the distinct clinical picture of the patients is due to mosaicism for the NF1 mutation and (2) the mosaic phenotype reflects the embryonic timing and, accordingly, the neural crest-derived cell type involved in the somatic NF1 mutation. The study of the affected cell types provides important insight into developmental concepts underlying particular NF1-related disease features and opens avenues for improved diagnosis and genetic counseling of individuals with mosaic NF1.
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