title: Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion-deletion mutation.
abstract: Neurofibromatosis type 1 (NF1) is a hereditary disease with variable clinical manifestations. This study was performed in a Chinese three-generation family containing two members with NF1. Two novel mutations, c.853_854insTC and c.1975_1976delinsTA, were identified in the same allele in both patients by direct sequencing. By reverse transcription polymerase chain reaction, we found that the NF1 transcript contained the first mutation instead of the second mutation, suggesting a pathological role of c.853_854insTC mutation. Case reports of patients with two NF1 mutations in the same allele have not been reported. Our findings expand the known spectrum of NF1 mutations and the ongoing recognition of different mutations may give insight into the mysterious NF1 pathogenesis.
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai, China.
authors.forename: Lude
authors.initials: L
authors.lastname: Zhu
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Shi
authors.affiliation: Department of Dermatology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Wang
authors.affiliation: Department of Dermatology, Nanjing Medical University, Affiliated Wuxi People's Hospital, Wuxi, China.
authors.forename: Mingye
authors.initials: M
authors.lastname: Bi
authors.affiliation: Department of Dermatology, Nanjing Medical University, Affiliated Wuxi People's Hospital, Wuxi, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Pu
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai, China.
authors.forename: Linglin
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai, China.
authors.forename: Yunfeng
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai, China. wangxiuli20150315@163.com.
authors.forename: Xiuli
authors.initials: X
authors.lastname: Wang
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai, China. zglamu@163.com.
authors.forename: Guolong
authors.initials: G
authors.lastname: Zhang
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D054643:INDEL Mutation; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*
keywords: 
  NF1
  ; Chinese; deletion-insertion; mutation; neurofibromatosis type 1