Identification of two novel mutations in the NF1 gene in Chinese patients with neurofibromatosis type 1
โ Scribed by Bin Chen; Liang-Dan Sun; Fu-Sheng Zhou; Feng-Ming Yao; Cheng Quan; Qiao-Yun Fang; Qiu-Ping Chen; Xing Fan; Sen Yang; Xue-Jun Zhang
- Book ID
- 111095684
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 799 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0926-9959
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Neurofibromatosis type 1 (NF1), characterized by skin neurofibromas and an excess of cafรฉau-lait spots, is due to mutations in the neurofibromin (NF1) gene. Identifying the genetic defect in individuals with the disease represents a significant challenge because the gene is extremely large with a hi
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,