Journal of the Formosan Medical Association
Volume 105, Issue 5 , Pages 434-437, 2006

Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses

  • Wen-Chau Chen

      Affiliations

    • Department of Emergency Medicine, National Cheng-Kung University Hospital, Tainan, Taiwan
    • Department of Orthopedics, National Cheng-Kung University Hospital, Tainan, Taiwan
    • ,
  • Chih-Hsien Chi

      Affiliations

    • Department of Emergency Medicine, National Cheng-Kung University Hospital, Tainan, Taiwan
    • ,
  • Chia-Chang Chuang

      Affiliations

    • Department of Emergency Medicine, National Cheng-Kung University Hospital, Tainan, Taiwan
    • ,
  • l-Ming Jou

      Affiliations

    • Department of Orthopedics, National Cheng-Kung University Hospital, Tainan, Taiwan
    • Corresponding Author InformationCorrespondence to: Professor I-Ming Jou, Department of Orthopedics, National Cheng-Kung University Hospital, 138 Sheng-Li Road, Tainan, Taiwan

Received 12 April 2005; received in revised form 24 May 2005; accepted 5 July 2005.

Article Outline

Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autoso-mal dominant disorder characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different exostosis (EXT) loci on chromosomes 8q (exostosin 1, EXT1), 11p (exostosin 2, EXT2) and 19p (exostosin 3, EXT3) have been reported. Recently, the EXT1 and EXT2 genes were identified by positional cloning. Using polymerase chain reaction and direct sequencing, we analyzed the EXT1 and EXT2 genes in three familial cases and one sporadic case of HME in Taiwanese patients. We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G>A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene). Mutation analysis in families with HME allows for genetic counseling and prenatal diagnosis.

Key Words:  multiple exostoses , mutation , osteochondroma

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PII: S0929-6646(09)60143-1

doi:10.1016/S0929-6646(09)60143-1

Journal of the Formosan Medical Association
Volume 105, Issue 5 , Pages 434-437, 2006

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