We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 durin
Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis
β Scribed by W. Xu; L. M. Mulligan; M. A. Ponder; L. Liu; B. A. J. Ponder; B. A. Smith; C. G. P. Mathew
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 565 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1045-2257
No coin nor oath required. For personal study only.
β¦ Synopsis
4 from patients with Von Hippel-Lindau syndrome (m).
The diagnosis was confirmed in each NF1 patient and conformed to internationally agreed criteria (Riccardi and Eichner, 1986;Mulvihill and Parry, 1987).
The diagnosis of MEN 2 and VHL was similarly con-
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## Abstract Neurofibromatosis type I (NF1) is an autosomal dominant familial tumor syndrome characterized by the presence of multiple benign neurofibromas. In 95% of NF1 individuals, a mutation is found in the __NF____1__ gene, and in 5% of the patients, the germline mutation consists of a microdel
Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2. About 30% of NF1 patients develop plexiform neurofibromas (PNFs), which often cause severe clinical deficits. To determine whether there is a certain genotype underlying PNFs or subt
In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal
In the present study the entire NF1 coding region was analyzed for mutations in 132 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 8 novel mutations. Clinical diagnosis of NF1 was established according to the NIH consensus criteria. We detected 59 truncated fragments,