title: A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses.
abstract: Hereditary multiple exostoses (HME) is an autosomal-dominant disorder characterized by the presence of bony outgrowths on the long bones. In this report, we describe a Chinese family with HME. Linkage analysis and mutation detection were performed. Linkage with the EXT2 was established in this family. A novel mutation, EXT2 c239-244delG, was identified. Mutation analysis in a family with HME allows for genetic counseling and prenatal diagnosis.
authors.affiliation: Graduate School of Peking Union Medical College, Beijing, China., National Research Institute for Family Planning, Beijing, China.
authors.forename: Shi Guo
authors.initials: SG
authors.lastname: Liu
authors.forename: De Guo
authors.initials: DG
authors.lastname: Lu
authors.forename: Zhong Qiang
authors.initials: ZQ
authors.lastname: Liu
authors.forename: Chang Ying
authors.initials: CY
authors.lastname: Liu
authors.forename: An Ying
authors.initials: AY
authors.lastname: Zhang
authors.forename: Zhen Qian
authors.initials: ZQ
authors.lastname: Li
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
mesh_terms: D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005190:Family; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D005796:Genes; D005817:Genetic Counseling; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype