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The molecular etiologies and associated phenotypes of amelogenesis imperfecta
Author(s) -
Wright J. Timothy
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31358
Subject(s) - amelogenesis imperfecta , phenotype , gene , genetics , biology , allele , amelogenesis , amelogenin , genetic heterogeneity , molecular genetics , genetic linkage , ameloblast , enamel paint , medicine , dentistry
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.