title: [NF1 mutation analysis in a Chinese family with neuro- fibromatosis type].
abstract: A Chinese family affected with autosomal dominant disorder-neurofibromatosis type I was identified in this study. Linkage analysis was performed, and DNA sequencing for whole coding region of NF1 was carried out to identify the disease-causing mutation. The disease gene of the Chinese NF1 family was linked to NF1 locus, and a nonsense mutation, G1336X in the NF1 gene was identified. This mutation truncates the NF1 protein by 1 483 amino acid residues at the C-terminus, and is co-segregate with all the patients, but not present in unaffected individuals in the family. The present study demonstrated that G1336X mutation in the NF1 gene cause Neurofibromatosis type I in the family. To our knowledge, this mutation is firstly reported in Chinese population.
authors.affiliation: Huazhong University of Science and Technology, Wuhan 430074, China. ianhawh@163.com
authors.forename: Ying-Hao
authors.initials: YH
authors.lastname: Huang
authors.forename: Qin-Bo
authors.initials: QB
authors.lastname: Yang
authors.forename: Yun-Hua
authors.initials: YH
authors.lastname: Deng
authors.forename: Nian-Wen
authors.initials: NW
authors.lastname: Yu
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
authors.forename: Mu-Gen
authors.initials: MG
authors.lastname: Liu
mesh_terms: D044466:Asian People; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D018389:Codon, Nonsense; D025542:Neurofibromin 1