caa a22 4500 39757326X CHVBK 20180308164847.0 cr unu---uuuuu 161202e199610 xx s 000 0 eng 10.1093/hmg/5.10.1547 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.10.1547 Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses [Elektronische Daten] [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, Patrick J. Willems] 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. © 1996 Oxford University Press Wuyts Wim Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Van Hul Wim Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Wauters Jan Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Nemtsova Marina Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia aut Reyniers Edwin Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Van Hul Els Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut De Boulle Kristel Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut de Vries Bert B. A. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands aut Hendrickx Jan Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Herrygers Ilde Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Bossuyt Paul Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Balemans Wendy Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Fransen Erik Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Vits Lieve Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Coucke Paul Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Nowak Norma J. Department of Human Genetics, Roswell Park Cancer Institute, Buffalo, NY, USA aut Shows Thomas B. Department of Human Genetics, Roswell Park Cancer Institute, Buffalo, NY, USA aut Mallet Laurence Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Inserm U393, Hôpital des Enfants-Malades, Paris, France aut van den Ouweland Ans M. W. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands aut McGaughran Julie Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Halley Dicky J. J. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands aut Willems Patrick J. Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut Human Molecular Genetics Oxford University Press 5/10(1996-10), 1547-1557 0964-6906 5:10<1547 1996 5 hmg https://doi.org/10.1093/hmg/5.10.1547 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.10.1547 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wuyts Wim Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Van Hul Wim Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Wauters Jan Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Nemtsova Marina Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia aut NATIONALLICENCE 700 1- Reyniers Edwin Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Van Hul Els Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- De Boulle Kristel Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- de Vries Bert B. A. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Hendrickx Jan Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Herrygers Ilde Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Bossuyt Paul Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Balemans Wendy Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Fransen Erik Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Vits Lieve Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Coucke Paul Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Nowak Norma J. Department of Human Genetics, Roswell Park Cancer Institute, Buffalo, NY, USA aut NATIONALLICENCE 700 1- Shows Thomas B. Department of Human Genetics, Roswell Park Cancer Institute, Buffalo, NY, USA aut NATIONALLICENCE 700 1- Mallet Laurence Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Inserm U393, Hôpital des Enfants-Malades, Paris, France aut NATIONALLICENCE 700 1- van den Ouweland Ans M. W. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- McGaughran Julie Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 700 1- Halley Dicky J. J. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Willems Patrick J. Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/10(1996-10), 1547-1557 0964-6906 5:10<1547 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford