Article

BioMedicine

, 4:11

First online:

Open Access This content is freely available online to anyone, anywhere at any time.

Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses

  • Wei-De LinAffiliated withDepartment of Medical Research, China Medical University HospitalSchool of Post Baccalaureate Chinese Medicine, China Medical University
  • , Wuh-Liang HwuAffiliated withDepartment of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University School of Medicine
  • , Chung-Hsing WangAffiliated withDepartment of Pediatrics, China Medical University HospitalSchool of Medicine, China Medical University
  • , Fuu-Jen TsaiAffiliated withDepartment of Medical Research, China Medical University HospitalDepartment of Pediatrics, China Medical University HospitalDepartment of Medical Genetics, China Medical University HospitalSchool of Chinese Medicine, China Medical UniversityDepartment of Health and Nutrition Biotechnology, Asia UniversityDepartment of Pediatrics and Medical Genetics, China Medical University Hospital Email author 

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 genes EXT1 and EXT2.

Methods

Two MHE patients were identified from clinic and enrolled in genetic study, complete coding regions of EXT1 and EXT2, including intron/exon boundaries, sequenced via DNA samples drawn from participants.

Results

DNA sequencing revealed mutant EXT1 gene 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 of EXT1 mutations, revealing similar incidence of EXT1 and EXT2 in Taiwanese MHE patients.

Keywords:

Multiple hereditary exostoses EXT1 EXT2 Gene mutation