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Journal of Dental Research
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Premature Stop Codon in MMP20 Causing Amelogenesis Imperfecta

P. Papagerakis1, H.-K. Lin2, K.Y. Lee3, Y. Hu4, J.P. Simmer1, J.D. Bartlett5 and J.C.-C. Hu4,*

1 Department of Biologic and Materials Sciences,
4 Department of Orthodontics and Pediatric Dentistry, University of Michigan School of Dentistry, 1011 N. University, Ann Arbor, MI 48109-1078, USA;
2 Department of Prosthodontics, and
3 Department of Pediatric Dentistry, Taipei Medical University Hospital, No. 15, Sec. 5, Xinyi Rd., Xinyi 11049, Taipei, Taiwan, ROC; and
5 Department of Cytokine Biology, The Forsyth Institute, 140 The Fenway, Boston, MA 02115, USA


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  		Figure 1. Clinical photographs of the proband (III-2) at age 11. (A) Frontal view. (B) Three-generation pedigree. (C) Mandibular occlusal view. (D) Maxillary occlusal view. (E) Enamel shear fractures can be seen on the incisal edge of tooth #26 and the functional cusps of teeth #27, 28, and 29. (F,G) Right and left lateral views with the teeth in occlusion. (H) Frontal view of proband’s older brother; DNA sequence chromatograms showing the homozygous normal (I), heterozygous (J), and homozygous mutant (K) sequences. The (g.102G>A) mutation sites are marked by arrows. The proband’s permanent dentition shows a generalized, intrinsic, yellow staining that is already evident during tooth eruption. The enamel surface is rough, and shows signs of previous chipping and wear. There is mild spacing related to the thinness of the enamel layer. A deep overbite and normal overjet are observed.

 

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  		Figure 2. Radiographs of proband at age 11. The affected enamel has reduced radiopacity and cannot be distinguished from the underlying dentin. Where the enamel can be distinguished, it appears thinner than normal. The posterior radiographs were enlarged relative to the anteriors.

 

Journal of Dental Research, Vol. 87, No. 1, 56-59 (2008)
DOI: 10.1177/154405910808700109
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