title: [From gene to disease; hereditary multiple exostoses].
abstract: Hereditary multiple exostoses is an autosomal dominant disorder characterised by the presence of multiple osteochondromas, resulting in a variety of skeletal deformities. It is a genetically heterogeneous condition for which two genes, EXT1 and EXT2, have been isolated. The EXT1 gene, located at 8q24, has been shown to harbour mutations in 44-66% of the hereditary multiple exostoses-families. Mutations in the EXT2 gene, located at 11p11-p12, are detected in about 30% of the families. Additional linkage to chromosome 19p suggests the existence of an EXT3 gene. EXT1 has been shown to act as a tumour suppressor gene in hereditary multiple exostoses, resulting in osteochondroma formation when both copies of EXT1 are lost. Diagnostic germ-line mutation analysis is operative in the Clinical Genetic Center Leiden, the Netherlands.
authors.affiliation: Universiteit Antwerpen, Centrum Medische Genetica, Antwerpen.
authors.forename: W
authors.initials: W
authors.lastname: Wuyts
authors.forename: J V M G
authors.initials: JV
authors.lastname: Bovée
authors.forename: P C W
authors.initials: PC
authors.lastname: Hogendoorn
mesh_terms: D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004252:DNA Mutational Analysis; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D008040:Genetic Linkage; D018095:Germ-Line Mutation; D006801:Humans; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D011506:Proteins; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2