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Journal of Dental Research
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Clinical

ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta

J.-W. Kim1,2, F. Seymen3, B.P.-J. Lin4, B. Kiziltan3, K. Gencay3, J.P. Simmer1 and J.C.-C. Hu1,*

1 Department of Orthodontics and Pediatric Dentistry, University of Michigan Dental Research Lab, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA;
2 Seoul National University, College of Dentistry, Department of Pediatric Dentistry & Dental Research Institute, 28-2 Yongon-dong, Chongno-gu, Seoul, Korea 110-768;
3 University of Istanbul, Faculty of Dentistry, Department of Pedodontics, Çapa, Istanbul, Turkey; and
4 UCSF School of Dentistry, Department of Growth and Development, San Francisco, CA 94143-0640, USA;

Correspondence: * corresponding author, janhu{at}umich.edu

To date, 4 unique enamelin gene (ENAM) defects have been identified in kindreds with amelogenesis imperfecta. To improve our understanding of the roles of enamelin in normal enamel formation, and to gain information related to possible genotype/phenotype correlations, we have identified 2 ENAM mutations in kindreds with hypoplastic ADAI, 1 novel (g.4806A>C, IVS6-2A>C) and 1 previously identified (g.8344delG), and have characterized the resulting enamel phenotypes. The IVS6-2A>C mutation caused a severe enamel phenotype in the proband, exhibiting horizontal grooves of severely hypoplastic enamel. The affected mother had several shallow hypoplastic horizontal grooves in the lower anterior teeth. In the case of the g.8344delG mutation, the phenotype was generalized hypoplastic enamel with shallow horizontal grooves in the middle 1/3 of the anterior teeth. In general, mutations in the human enamelin gene cause hypoplastic enamel, often with horizontal grooves, but the severity of the enamel defects is variable, even among individuals with the same mutation.

Key Words: enamel • enamelin • amelogenesis imperfecta • hypoplastic AI • incomplete penetrance

Journal of Dental Research, Vol. 84, No. 3, 278-282 (2005)
DOI: 10.1177/154405910508400314
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