Journal of Clinical & Experimental Dermatology Research
Open Access
ISSN: 2155-9554
+44 1478 350008
ISSN: 2155-9554
+44 1478 350008
Yan-Hua Liang
Department of Dermatology, Nanfang Hospital,
1838 North Guangzhou Avenue, Guangzhou, Guangdong 510515
China
Research Article
Three Novel Missense Mutations of NF1 in Neurofibromatosis Type 1 Patient
Author(s): Kang Zeng, Qi-Guo Zhang, Liu-Ping Liang and Yan-Hua LiangKang Zeng, Qi-Guo Zhang, Liu-Ping Liang and Yan-Hua Liang
Neurofibromatosis type 1 is a common neurocutaneous disorder, mostly caused by mutations in the NF1 gene. To identify the molecular genetic etiology of neurofibromatosis type 1 in two familiar and three sporadic cases of Han Chinese, DNA was isolated from the peripheral blood of eight patients in two NF1 pedigrees, three sporadic cases, and 100 unrelated healthy controls. Mutation screening for coding and exon-intron boundary sequences of NF1 gene was performed. Three novel missense mutations, c.601T>A in exon 4, c.871G>T in exon 6, and c.1448A>G in exon 10, were identified. These mutations provided new data for the spectrum of NF1 mutations causing neurofibromatosis type 1. .. View More»
DOI:
10.4172/2155-9554.1000211