臨床および実験皮膚科学研究ジャーナル
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概要

Three Novel Missense Mutations of NF1 in Neurofibromatosis Type 1 Patient

Kang 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.