title: A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses.
abstract: Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by benign bone tumors. In this report, we describe two unrelated Chinese families with HME. Linkage analysis and mutation detection was performed. Clinical analysis was also performed for some affected individual in both families. Linkage with the EXT2 was established in both families. A novel mutation, c505 G > T, was identified in both families. Further allelic heterogeneity of EXT2 was demonstrated by the intrafamilial and interfamilial variability in clinical phenotype.
authors.affiliation: Graduate School of Peking Union Medical College, Beijing, China.
authors.forename: Shi Guo
authors.initials: SG
authors.lastname: Liu
authors.forename: Fei Feng
authors.initials: FF
authors.lastname: Li
authors.forename: Shang Zhi
authors.initials: SZ
authors.lastname: Huang
authors.forename: Yang
authors.initials: Y
authors.lastname: Chen
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.forename: De Guo
authors.initials: DG
authors.lastname: Lu
authors.forename: Meng
authors.initials: M
authors.lastname: Zhang
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
mesh_terms: D000293:Adolescent; D000328:Adult; D022981:Allelic Imbalance; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010641:Phenotype; D000099065:Exostosin 2
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099065:Exostosin 2