Ten novel mutations found in aniridia

Autor: A Kivioja, Juha Kinnunen, S Knuutila, H. Ervasti, Ilkka Kaitila, P Sistonen, Maija Wolf, Akseli Hemminki, E Karaharju
Rok vydání: 1998
Předmět:
Zdroj: Human Mutation. 12:304-313
ISSN: 1098-1004
1059-7794
DOI: 10.1002/(sici)1098-1004(1998)12:5<304::aid-humu3>3.3.co;2-y
Popis: 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.
Databáze: OpenAIRE
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