This Article Figures Only Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by McKnight, D.A. Articles by Fisher, L.W. Search for Related Content PubMed PubMed Citation Articles by McKnight, D.A. Articles by Fisher, L.W. Social Bookmarking                         What's this?

Overlapping DSPP Mutations Cause Dentin Dysplasia and Dentinogenesis Imperfecta

¹ Craniofacial and Skeletal Diseases Branch, NIDCR, NIH, DHHS, 9000 Rockville Pike, Bldg. 30, Room 228, Bethesda, MD 20892, USA;
² Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Dental Research Lab, Ann Arbor, MI 48108, USA;
³ Office of the Clinical Director, NHGRI, NIH, DHHS, Bethesda, MD 20892, USA; and
⁴ Section of Human and Craniofacial Genetics, NIDCR, NIH, DHHS, Bethesda, MD 20892, USA

Correspondence: ^* corresponding author, lfisher{at}dir.nidcr.nih.gov

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.3141delC) 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-undescribed genetic modifier closely linked to DSPP.

Key Words: DSPP • dentinogenesis imperfecta • dentin dysplasia • DPP

Journal of Dental Research, Vol. 87, No. 12, 1108-1111 (2008)
DOI: 10.1177/154405910808701217


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?