ArticleHuman genetics2004
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I.Orphanet journal of rare diseases · 2021Article
- Peripheral nerve sheath tumors of the upper extremity and hand in patients with neurofibromatosis type 1: topography of tumors and evaluation of surgical treatment in 62 patients.GMS Interdisciplinary plastic and reconstructive surgery DGPW · 2017Article
- Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography.Clinical ophthalmology (Auckland, N.Z.) · 2016Review
- Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.Scientific reports · 2015Article
- Mosaic RASopathies.Cell cycle (Georgetown, Tex.) · 2013Review
- The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.PLoS genetics · 2011Article
- Hereditary genodermatoses with cancer predisposition.Hematology/oncology clinics of North America · 2010Review
- Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.Human genetics · 2010Article
- Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.American journal of human genetics · 2007Article
- Ophthalmological manifestations in segmental neurofibromatosis type 1.The British journal of ophthalmology · 2004Article
- Partial unilateral lentiginosis with ipsilateral Lisch nodules and pilocytic astrocytoma: Is this a type of segmental neurofibromatosis?Indian journal of dermatology, venereology and leprologyArticle
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with typical features of neurofibromatosis type 1 (NF1) limited to a specific body segment are usually referred to as having "segmental NF1", which is generally assumed to be the result of somatic mosaicism for a NF1 mutation. Mosaicism has also been demonstrated at the molecular level in some sporadic cases with phenotypically classic NF1. In the present report, we describe a patient with NF1 disease manifestations throughout the whole body, but leaving a few sharply delineated segments of the skin unaffected, suggestive of revertant mosaicism. A large intragenic deletion was found by mutation analysis using long-range RT-PCR. The intra-exonic breakpoints were characterized in exon 13 and exon 28, resulting in a deletion of 99,571 bp at the genomic level. The presence of two genetically distinct cell populations, confirming mosaicism for this NF1 mutation, was shown by analysis of several tissues. Revertant mosaicism was excluded by demonstrating heterozygosity for markers residing in the deletion region. The findings in this patient demonstrate two things: (1) although the entire body is affected, mosaicism can still be suspected at clinical examination and proven by DNA analysis and skin biopsies; (2) long-range RT-PCR is a feasible method for demonstrating large intragenic deletions in NF1.
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