China Journal of Leprosy and Skin Diseases ›› 2019, Vol. 35 ›› Issue (1): 9-12.doi: 10.12144/zgmfskin201901009

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Mutation analysis in three cases with sporadic neurofibromatosis type 1

LANG Xiaoqiao1,2,3，SUN Yonghu2,3，FU Xi'an2,3, SUN Lele2,3, LIU Hong2,3, ZHANG Furen2,3    

  1. 1. School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan 250000, China;  2. Shandong Provincial Institute of Dermatology and Venereology, Jinan 250022, China;  3. Shandong Dermatological Hospital, Jinan 250022, China
  • Online:2019-01-15 Published:2019-02-26
  • Contact: ZHANG Furen, E-mail: zhangfuren@hotmail.com

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Abstract: Objective: To detect the mutations of NF1 gene in three sporadic patients with neurofibromatosis type 1 (NF1). Methods: DNA was extracted from peripheral blood of three cases and 5 family members and 100 unrelated healthy controls. NF1 gene was amplified by polymerase chain reaction (PCR). After purification, the PCR products were sequenced by sanger sequencing. Results: Three mutations of c.5635 delG in exon 39, c.7041~7062+4del in exon 47 and c.2714-2715delAC in exon 21 in NF1 gene were identified in the three patients respectively. These mutations were not found in other family members and the 100 healthy controls. Conclusion: Three novel mutations in NF1 gene were found in this study.

Key words: neurofibromatosis type 1, NF1 gene, mutation analysis