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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.
Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.
Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.
Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.
Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.
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2004 (English)In: International Journal of Molecular Medicine, ISSN 1107-3756, E-ISSN 1791-244X, Vol. 13, no 1, p. 47-52Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Spandidos Publications , 2004. Vol. 13, no 1, p. 47-52
Keywords [en]
exostosin 2, exostosin-2, n acetylglucosaminyltransferase, aged, article, chromosome analysis, DNA sequence, female, gene deletion, genetics, hereditary multiple exostosis, human, male, middle aged, neoplasm, pathophysiology, pedigree, Cytogenetic Analysis, Exostoses, Multiple Hereditary, Humans, N-Acetylglucosaminyltransferases, Neoplasms, Sequence Analysis, DNA, Sequence Deletion
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:hj:diva-39626ISI: 000187534800007PubMedID: 14654969Scopus ID: 2-s2.0-1542753747OAI: oai:DiVA.org:hj-39626DiVA, id: diva2:1211703
Available from: 2018-05-31 Created: 2018-05-31 Last updated: 2018-05-31Bibliographically approved

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