How to cite this article: Wright JT. 2006. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet Part A 140A:2547–2555.
The molecular etiologies and associated phenotypes of amelogenesis imperfecta†
Version of Record online: 12 JUL 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 2547–2555, 1 December 2006
How to Cite
Wright, J. T. (2006), The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am. J. Med. Genet., 140A: 2547–2555. doi: 10.1002/ajmg.a.31358
- Issue online: 21 NOV 2006
- Version of Record online: 12 JUL 2006
- Manuscript Accepted: 22 MAY 2006
- Manuscript Received: 1 MAY 2006
- NIDCR. Grant Number: 12879
- matrix metalloproteinase;
The amelogenesis imperfectas (AIs) are a clinically and genetically diverse group of conditions that are caused by mutations in a variety of genes that are critical for normal enamel formation. To date, mutations have been identified in four genes (AMELX, ENAM, KLK4, MMP20) known to be involved in enamel formation. Additional yet to be identified genes also are implicated in the etiology of AI based on linkage studies. The diverse and often unique phenotypes resulting from the different allelic and non-allelic mutations in these genes provide an opportunity to better understand the role of these genes and their related proteins in enamel formation. Understanding the AI phenotypes also provides an aid to clinicians in directing molecular studies aimed at delineating the genetic basis underlying these diverse clinical conditions. Our current knowledge of the known mutations and associated phenotypes of the different AI subtypes are reviewed. © 2006 Wiley-Liss, Inc.