title: MutantEXT1in Taiwanese Patients with Multiple Hereditary Exostoses.
abstract: BACKGROUND
  Multiple hereditary exostoses (MHE) is characterized by multiple benign projections of bone capped by cartilage, most numerous in metaphyses of long bones. HME are usually inherited in autosomal dominant mode, chief genesEXT1andEXT2.
  
  
  METHODS
  Two MHE patients were identified from clinic and enrolled in genetic study, complete coding regions ofEXT1andEXT2, including intron/exon boundaries, sequenced via DNA samples drawn from participants.
  
  
  RESULTS
  DNA sequencing revealed mutantEXT1gene in both cases, within which frame-shift mutation c.447delC (p.Ser149fsX156) in exon1 and nonsense mutation c.2034T>G (p.Tyr678X) in exon10, emerged. Neither mutation was detected in control group.
  
  
  CONCLUSIONS
  Our results extended the spectrum ofEXT1mutations, revealing similar incidence ofEXT1andEXT2in Taiwanese MHE patients.
authors.affiliation: Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan.
authors.forename: Wei-De
authors.initials: WD
authors.lastname: Lin
authors.affiliation: Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University School of Medicine, Taipei, Taiwan.
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.affiliation: Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan ; School of Medicine, China Medical University, Taichung, Taiwan.
authors.forename: Chung-Hsing
authors.initials: CH
authors.lastname: Wang
authors.affiliation: Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan ; Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan ; School of Chinese Medicine, China Medical University, Taichung, Taiwan ; Department of Health and Nutrition Biotechnology, Asia University, Taichung, Taiwan ; Department of Pediatrics and Medical Genetics, China Medical University Hospital, No. 2, Yuh Der Road, 404 Taichung, Taiwan.
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
keywords: EXT1; EXT2; Gene mutation; Multiple hereditary exostoses