Hereditary multiple and isolated sporadic exostoses in the same kindred: Identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes

  • Authors:
    • Mihailo Vujic
    • Annika Bergman
    • Bertil Romanus
    • Jan Wahlström
    • Tommy Martinsson
  • View Affiliations

  • Published online on: January 1, 2004     https://doi.org/10.3892/ijmm.13.1.47
  • Pages: 47-52
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Abstract

Hereditary multiple exostoses (HME) is a well known autosomal dominant hereditary orthopedic disorder. Isolated exostoses, on the other hand, occur as sporadic events or as secondary post-traumatic sequel. The occurrence of solitary exostoses in individuals from pedigrees affected with HME may distort conclusions about carrier status and/or diagnosis. Both conditions are potentially malignant and both are associated with genetic alterations in either EXT1 or EXT2 genes. In this study, we present a seven-generation family from western Sweden consisting of 170 blood relatives, 38 of whom had multiple cartilaginous exostoses, while 8 had isolated exostoses. Linkage analysis aimed to discern one of the known EXT genes demonstrated linkage of the HME phenotype to the EXT2 gene. Subsequent mutation analysis revealed a novel mutation, nt112delAT, in this gene. All carriers of the detected mutation had multiple exostoses, indicating full penetrance. None of the pedigree members with isolated exostoses were carriers of the detected mutation. Two of the mutation carriers developed chondrosarcoma yielding a 5.2% risk of malignant development for this mutation. The detection of this mutation has enabled us to provide appropriate genetic counseling concerning this complex situation.

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January 2004
Volume 13 Issue 1

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Vujic M, Bergman A, Romanus B, Wahlström J and Martinsson T: Hereditary multiple and isolated sporadic exostoses in the same kindred: Identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes. Int J Mol Med 13: 47-52, 2004
APA
Vujic, M., Bergman, A., Romanus, B., Wahlström, J., & Martinsson, T. (2004). Hereditary multiple and isolated sporadic exostoses in the same kindred: Identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes. International Journal of Molecular Medicine, 13, 47-52. https://doi.org/10.3892/ijmm.13.1.47
MLA
Vujic, M., Bergman, A., Romanus, B., Wahlström, J., Martinsson, T."Hereditary multiple and isolated sporadic exostoses in the same kindred: Identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes". International Journal of Molecular Medicine 13.1 (2004): 47-52.
Chicago
Vujic, M., Bergman, A., Romanus, B., Wahlström, J., Martinsson, T."Hereditary multiple and isolated sporadic exostoses in the same kindred: Identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes". International Journal of Molecular Medicine 13, no. 1 (2004): 47-52. https://doi.org/10.3892/ijmm.13.1.47