Journal Article

Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

Wim Wuyts, Wim Van Hul, Jan Wauters, Marina Nemtsova, Edwin Reyniers, Els Van Hul, Kristel De Boulle, Bert B. A. de Vries, Jan Hendrickx, Ilde Herrygers, Paul Bossuyt, Wendy Balemans, Erik Fransen, Lieve Vits, Paul Coucke, Norma J. Nowak, Thomas B. Shows, Laurence Mallet, Ans M. W. van den Ouweland, Julie McGaughran, Dicky J. J. Halley and Patrick J. Willems

in Human Molecular Genetics

Volume 5, issue 10, pages 1547-1557
Published in print October 1996 | ISSN: 0964-6906
e-ISSN: 1460-2083 | DOI:
Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

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Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different EXT loci on chromosomes 8q (EXT1), 11p (EXT2) and 19p (EXT3) have been reported, and recently the EXT1 gene was identified by positional cloning. To isolate the EXT2 gene, we constructed a contig of yeast artificial chromosomes (YAC) and P1 clones covering the complete EXT2 candidate region on chromosome 11p11-p12. One of the transcribed sequences isolated from this region corresponds to a novel gene with homology to the EXT1 gene, and harbours inactivating mutations in different patients with hereditary multiple exostoses. This indicates that this gene is the EXT2 gene. EXT2 has an open reading frame encoding 718 amino acids with an overall homology of 30.9% with EXT1, suggesting that a family of related genes might be responsible for the development of EXT.

Journal Article.  7486 words.  Illustrated.

Subjects: Genetics and Genomics

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