A novelNF1gene mutation in an Italian family with neurofibromatosis type 1
β Scribed by Anna Lia Gabriele; Martino Ruggieri; Alessandra Patitucci; Angela Magariello; Francesca Luisa Conforti; Rosalucia Mazzei; Maria Muglia; Carmine Ungaro; Gemma Di Palma; Luigi Citrigno; William Sproviero; Antonio Gambardella; Aldo Quattrone
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 144 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0256-7040
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We report on two independent alterations of the NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophoresis (TGGE) in a mutation analysis of exon 31 of the NF1 gene we detected the previously reported nonsense mutation R1947X. This Cto-T
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
The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have never been reported before. Clinical diagnosis of NF1 was established according to the NIH consensus criteria in 100 individ
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