Recurrent 2‐bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

Robinson, Peter N.; Buske, Annegret; Neumann, Regina; Tinschert, Sigrid; Nürnberg, Peter

doi:10.1002/(sici)1098-1004(1996)7:1<85::aid-humu17>3.3.co;2-m

Cited by 3 publications

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“…The other mutations are new. The mutation D176E is the second change identified in the NF1 gene of patient 0545, who has already been reported to be a carrier of the disease-causing mutation 1541delAG [17]. Therefore, we interpret D176E as a rare polymorphism.…”

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confidence: 74%

Analysis of theNF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b

et al. 2000

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confidence: 74%

Analysis of theNF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b

et al. 2000

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“…The genetic basis of the disease is a mutation located on chromosome 17q11.2 (1). Although recently a wide variety of genetic mutations has been described (2)(3)(4), no frequently recurring mutation has been identified, and diagnosis is still based on established clinical criteria (5). The "classic triad" of symptoms is: cafè-au-lait spots (brown skin pigmentation), cutaneous neurofibromas, and neoplasms of the peripheral or central nervous system.…”

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confidence: 99%

Ampullary Adenocarcinoma in Neurofibromatosis Type 1. Case Report and Literature Review

et al. 2001

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Periampullary tumors in patients affected by Neurofibromatosis Type 1 (NF-1) are usually carcinoids or stromal tumors and, rarely, adenocarcinomas. We report a case of an adenocarcinoma of the ampulla of Vater in a 54-year-old woman with NF-1 admitted to the hospital with jaundice and undergoing pancreato-duodenectomy. Histologically, the resected specimen showed an adenocarcinoma of the ampulla as being a part of a complex atypical epithelial proliferation extended from the papilla to the mucosa of the duodenum and distal choledochus, islet-cell adenomatosis of the pancreas and multiple gastric, duodenal, jejunal stromal tumors. The ampullary and periampullary adenocarcinomas in NF-1 patients have peculiar features, suggesting a widespread predisposition to cancer development in periampullary tissues and requiring widely demolitive surgery. Moreover, they occur at a younger age than those occurring in non-NF-1 patients, may be associated with additional periampullary epithelial tumors, are often operable and may present long survival.

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“…Primer sequences and polymerase chain reaction (PCR) conditions are given in Table 1. TGGE was performed as described by Robinson et al (1996). cDNA was synthesized with the Superscript preamplification system (Gibco BRL, USA) using total RNA (Chomczynsky and Sacchi 1987).…”

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confidence: 99%

Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene

et al. 1998

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Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder. It is caused by mutations in the NF1 gene, which comprises 60 exons and is located on chromosome 17q11.2. A total of 170 unrelated NF1 patients were screened for mutations in four exons by temperature-gradient gel electrophoresis. Preparatory work revealed the presence of a previously uncharacterized intron (19a) in what was previously designated exon 19; this allowed us to develop assays for genomic mutation screening in the newly defined exons 19a and 19b. Two novel NF1 mutations were detected: a single-base insertion in exon 19a creating a frameshift, and a second mutation affecting the splice donor site of intron 20 and leading to skipping of exon 20. A novel BsaBI polymorphism was identified in intron 19a.

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Recurrent 2‐bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

Cited by 3 publications

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Analysis of theNF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b

Analysis of theNF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b

Ampullary Adenocarcinoma in Neurofibromatosis Type 1. Case Report and Literature Review

Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene

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