Journal
JOURNAL OF DENTAL RESEARCH
Volume 87, Issue 12, Pages 1108-1111Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/154405910808701217
Keywords
DSPP; dentinogenesis imperfecta; dentin dysplasia; DPP
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Funding
- USPHS [DE15846]
- NIH
- NIDCR
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Dentinogenesis imperfecta (DGI) and dentin dysplasia ( DD) are allelic disorders due to mutations in DSPP. Typically, the phenotype breeds true within a family. Recently, two reports showed that 3 different net -1 bp frameshift mutations early in DSPP's repeat domain caused DD, whereas 6 more 3' frameshift mutations were associated with DGI. Here we identify a DD kindred with a novel -1 bp frameshift (c.3141de1C) that falls within the portion of the DSPP repeat domain previously associated solely with the DGI phenotype. This new frameshift mutation shows that overlapping DSPP mutations can give rise to either DGI or DD phenotypes. Furthermore, the consistent kindred presentation of the DD or DGI phenotype appears to be dependent on an as-yet-ndescribed genetic modifier closely linked to DSPP.
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