title: The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family.
abstract: Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. The main function of neurofibromin is down-regulating the biological activity of the proto-oncoprotein Ras by acting as a Ras-specific GTPase activating protein. In this study, we identified a Chinese family affected with neurofibromatosis type 1. The known gene NF1 associated with NF1 was studied by linkage analysis and by direct sequencing of the entire coding region and exon-intron boundaries of the NF1 gene. The R1947X mutation of NF1 was identified, which was co-segregated with affected individuals in the Chinese family, but not present in unaffected family members. This is the first report, which states that the R1947X mutation of NF1 may be one of reasons for neurofibromatosis type 1 in Chinese population.
authors.affiliation: Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Qinbo
authors.initials: Q
authors.lastname: Yang
authors.forename: Changzheng
authors.initials: C
authors.lastname: Huang
authors.forename: Xiaoying
authors.initials: X
authors.lastname: Yang
authors.forename: Yinfu
authors.initials: Y
authors.lastname: Feng
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
authors.forename: Mugen
authors.initials: M
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D016514:Genes, Neurofibromatosis 1; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree