Article
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia.
Journal of endodontics - 1 Dec 2008
Lee Sook-Kyung, Hu Jan C-C, Lee Kyung-Eun, Simmer James P, Kim Jung-Wook
Abstract excerpt
The dentin sialophosphoprotein (DSPP) gene on chromosome 4q21.3 encodes the major noncollagenous protein in tooth dentin. DSPP mutations are the principal cause of dentin dysplasia type II, dentinogenesis imperfecta type II, and dentinogenesis imperfecta type III. We have identified a DSPP splice junction mutation (IVS2-6T>G) in a family with dentin dysplasia type II. The primary dentition is discolored brown...
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