title: A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.
abstract: Hereditary multiple exostoses is a dominantly inherited disease characterized by multiple benign osteochondromas. The affected individuals have an increased risk of developing sarcoma. A large Finnish family with hereditary multiple exostosis was analyzed to find the disease-causing mutation. Blood samples were obtained from 35 family members, including 21 affected and 14 unaffected individuals. Using 2-point linkage analysis the EXT phenotype was shown to be linked to the recently cloned EXT2 gene on chromosome 11p11. The coding region of the gene was sequenced and a previously unreported splice site mutation found. This G to T transversion within a 5-prime splice donor site following exon 6 was shown to cause aberrant splicing of RNA. The described change is considered to be a novel disease-causing mutation in the EXT2 gene.
authors.affiliation: Department of Medical Genetics, Haartman Institute, P.O.Box 21, (Haartmaninkatu 3), FIN-00014 University of Helsinki, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Wolf
authors.forename: A
authors.initials: A
authors.lastname: Hemminki
authors.forename: A
authors.initials: A
authors.lastname: Kivioja
authors.forename: P
authors.initials: P
authors.lastname: Sistonen
authors.forename: I
authors.initials: I
authors.lastname: Kaitila
authors.forename: H
authors.initials: H
authors.lastname: Ervasti
authors.forename: J
authors.initials: J
authors.lastname: Kinnunen
authors.forename: E
authors.initials: E
authors.lastname: Karaharju
authors.forename: S
authors.initials: S
authors.lastname: Knuutila
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D006801:Humans; D017351:N-Acetylglucosaminyltransferases; D017354:Point Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D000099065:Exostosin 2
chemical_list: D011506:Proteins; D017351:N-Acetylglucosaminyltransferases; D000099065:Exostosin 2