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Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes by Wim Wuyts; Wim Van Hul is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes about?

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of exostoses, which are cartilage-capped bony protuberances mainly located on long bones. Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation of exostoses. To date, 49 different EXT1 and 25 different EXT2 mutations have been found in EXT patients, and there is evidence that mutations in these two genes are responsible for over 70% of the EXT cases. Among the 49 EXT1 mutations there are 9 nonsense, 21 frameshift, and 5 splice site mutations; 2 in-frame deletions of 1 and 5 amino acids respectively; and 12 missense mutations. For EXT2, 8 nonsense, 11 frameshift, 3 splice site and 3 missense mutations are described. The majority of these mutations are mutations causing loss of function, which is consistent with the presumed tumor suppressor function of the EXT genes.

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Author

Wim Wuyts; Wim Van Hul

Publisher

Hindawi Limited

Published

2000

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)