期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 140A, 期 23, 页码 2547-2555出版社
WILEY
DOI: 10.1002/ajmg.a.31358
关键词
enamel; amelogen; kalikrien; matrix metalloproteinase; AMELX; ENAM; KLK4; MMP20; DLX3
资金
- NIDCR NIH HHS [R01 DE012879] Funding Source: Medline
- PHS HHS [NIDCR12879] Funding Source: Medline
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, imitations have been identified in four genes (AMELX, ENAM, KIK4, 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 front 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 molecule studies aimed at delineating the genetic basis Underlying these diverse clinical conditions. Our current knowledge of the known mutations and associated phenotyes of the different AI subtypes are reviewed. (c) 2006 Wiley-Liss, Inc.
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