A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.
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.
Wolf
M
M
Department of Medical Genetics, Haartman Institute, P.O.Box 21, (Haartmaninkatu 3), FIN-00014 University of Helsinki, Finland.
Hemminki
A
A
Kivioja
A
A
Sistonen
P
P
Kaitila
I
I
Ervasti
H
H
Kinnunen
J
J
Karaharju
E
E
Knuutila
S
S
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
D011506:Proteins; D017351:N-Acetylglucosaminyltransferases; D000099065:Exostosin 2