Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment

Lammert, Marga; Friedman, Jan M.; Kluwe, Lan; Mautner, Victor

doi:10.1001/archderm.141.1.71

Cited by 330 publications

(192 citation statements)

References 22 publications

(44 reference statements)

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“…Neurofibromatosis type 1 (NF1; MIM #162200) is a common neurocutaneous disorder with an estimated birth incidence of 1/3000 [Friedman et al, 1999;Lammert et al, 2005].…”

Section: Introductionmentioning

confidence: 99%

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

et al. 2011

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International audienceMosaicism is an important feature of type-1 neurofibromatosis (NF1) on account of its impact upon both clinical manifestations and transmission risk. Using FISH and MLPA to screen 3500 NF1 patients, we identified 146 individuals harbouring gross NF1 deletions, 14 of whom (9.6%) displayed somatic mosaicism. The high rate of mosaicism in patients with NF1 deletions supports the postulated idea of a direct relationship between the high new mutation rate in this cancer predisposition syndrome and the frequency of mosaicism. Seven of the 14 mosaic NF1 deletions were type-2, whereas 4 were putatively type-1, and three were atypical. Two of the 4 probable type-1 deletions were confirmed as such by breakpoint-spanning PCR or SNP analysis. Both deletions were associated with a generalized manifestation of NF1. Independently, we identified a third patient with a mosaic type-1 NF1 deletion who exhibited segmental NF1. Together, these three cases constitute the first proven mosaic type-1 deletions so far reported. In two of these three mosaic type-1 deletions, the breakpoints were located within PRS1 and PRS2, previously identified as hotspots for non-allelic homologous recombination (NAHR) during meiosis. Hence, NAHR within PRS1 and PRS2 is not confined to meiosis but may also occur during postzygotic mitotic cell cycles

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“…Neurofibromatosis type 1 (NF1; MIM #162200) is a common neurocutaneous disorder with an estimated birth incidence of 1/3000 [Friedman et al, 1999;Lammert et al, 2005].…”

Section: Introductionmentioning

confidence: 99%

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

et al. 2011

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“…Neurofibromatosis type 1 (NF1, OMIM 162200) is an autosomal dominant disorder caused by various constitutional mutations in NF1 1,2 with a frequency in the general population of ~1 in 3,000. 3 The disorder is characterized by neurofibromas, Lisch nodules, and café-au-lait macules. Approximately 5% of individuals with NF1 have a 1.4-Mb heterozygous deletion of 17q11.2 that includes NF1.…”

Section: Introductionmentioning

confidence: 99%

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype

Moles

Gowans

Gedela

et al. 2012

Genetics in Medicine

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Purpose: Neurofibromatosis, type 1 (NF1) is an autosomal dominant disorder caused by mutations of the neurofibromin 1 (NF1) gene at 17q11.2. Approximately 5% of individuals with NF1 have a 1.4-Mb heterozygous 17q11.2 deletion encompassing NF1, formed through nonallelic homologous recombination (NAHR) between the low-copy repeats that flank this region. NF1 microdeletion syndrome is more severe than NF1 caused by gene mutations, with individuals exhibiting facial dysmorphisms, developmental delay (DD), intellectual disability (ID), and excessive neurofibromas. Although NAHR can also cause reciprocal microduplications, reciprocal NF1 duplications have been previously reported in just one multigenerational family and a second unrelated proband. methods:We analyzed the clinical features in seven individuals with NF1 microduplications, identified among 48,817 probands tested in our laboratory by array-based comparative genomic hybridization. Results:The only clinical features present in more than one individual were variable DD/ID, facial dysmorphisms, and seizures. No neurofibromas were present. Three sets of parents were tested: one duplication was apparently de novo, one inherited from an affected mother, and one inherited from a clinically normal father.conclusion: This is the first report comparing the phenotypes of nonrelated individuals with NF1 microduplications. This comparison will allow for further definition of this emerging microduplication syndrome.Genet Med 2012:14(5):508-514

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“…3,4 Patients present with a constellation of symptoms that include café-aulait spots, neurofibromas, Lisch nodules, axillary freckling, and often developmental delays. NF1 is the result of a mutation in the tumor suppressor gene NF1 located on chromosome 17 that codes for neurofibromin, a protein that regulates the Ras GTPase signaling 2…”

Section: Discussionmentioning

confidence: 99%

Concurrent Ulcerative Colitis and Neurofibromatosis Type 1: The Question of a Common Pathway

et al. 2016

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Patients with neurofibromatosis type 1 (NF1) are prone to the development of gastrointestinal stromal tumors, which may present clinically with hematochezia, obstruction, or abdominal pain. These symptoms are also commonly associated with the presentation of ulcerative colitis (UC). Within the past 5 years, there have been 2 reports of concurrent NF1 and UC and a common pathophysiologic pathway involving mast cells has been postulated. We present the case of a 15-year-old boy with a known history of NF1 who presented with 3 months of hematochezia and loose stools. A colonoscopy revealed pancolitis and histology demonstrating acute cryptitis, focal crypt abscesses, and architectural distortion consistent with UC. Due to the paucity of reported cases, the findings of both diseases in the same individual could reasonably be discounted as coincidence. However, in light of increasing reports of concurrent NF1 and UC, advances in characterizing the microenvironment within neurofibromas, and recent findings regarding potential shared genetic susceptibility, it is increasingly possible that the proposed common pathway is accurate. Our case adds to the literature and underscores the need for further investigation.

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Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment

Cited by 330 publications

References 22 publications

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype

Concurrent Ulcerative Colitis and Neurofibromatosis Type 1: The Question of a Common Pathway

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