How to cite this article: MacDougall M, Dong J, Acevedo AC. 2006. Molecular Basis of Human Dentin Diseases. Am J Med Genet Part A 140A:2536–2546.
Molecular basis of human dentin diseases†
Article first published online: 5 SEP 2006
Copyright © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Thirteenth Annual Robert J. Gorlin Conference on Dysmorphology; Facial and Oral Structures: Molecular Perspectives
Volume 140A, Issue 23, pages 2536–2546, 1 December 2006
How to Cite
MacDougall, M., Dong, J. and Acevedo, A. C. (2006), Molecular basis of human dentin diseases. Am. J. Med. Genet., 140A: 2536–2546. doi: 10.1002/ajmg.a.31359
- Issue published online: 21 NOV 2006
- Article first published online: 5 SEP 2006
- Manuscript Accepted: 20 MAY 2006
- Manuscript Received: 1 MAY 2006
- dentin dysplasia;
- dentinogenesis imperfecta;
- dentin sialophosphoprotein;
In recent years, substantial progress has been made regarding the molecular etiology of human structural tooth diseases that alter dentin matrix formation. These diseases have been classified into two major groups with subtypes: dentin dysplasia (DD) types I and II and dentinogenesis imperfecta (DGI) types I–III. Genetic linkage studies have identified the critical loci for DD-II, DGI-II, and DGI-II to human chromosome 4q21. Located within the common disease loci for these diseases is cluster of dentin/bone genes that includes osteopontin (OPN), bone sialoprotein (BSP), matrix extracellular phosphoglycoprotein (MEPE), dentin matrix protein 1 (DMP1), and dentin sialophosphoprotein (DSPP). To date, only mutations within dentin sialophosphoprotein have been associated with the pathogenesis of dentin diseases including DGI types-II and -III and DD-II. In this article, we overview the recent literature related to these dentin genetic diseases, their clinical features, and molecular pathogenesis. © 2006 Wiley-Liss, Inc.