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Phenotypic Variation in Dentinogenesis Imperfecta/Dentin Dysplasia Linked to 4q21

M.L. Beattie^1,, J.-W. Kim^1,2, S.-G. Gong^1,3, C.A. Murdoch-Kinch¹, J.P. Simmer¹, and J.C.-C. Hu^1,*

¹ University of Michigan School of Dentistry, 1011 North University, Ann Arbor, MI 48109-1078, USA;
² Seoul National University, School of Dentistry & Dental Research Institute, Department of Pediatric Dentistry, 28-2 Yongon-Dong Chongno-Ku, Seoul, Korea 110-749; and
³ Division of Orthodontics, Faculty of Dentistry, University of Toronto, 124 Edward Street, Toronto, Ontario, Canada M5G 1G6

^* corresponding author, Department of Orthodontics and Pediatric Dentistry, University of Michigan Dental Research Lab, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA; janhu{at}umich.edu

Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders that primarily affect the formation of tooth dentin. Both conditions are autosomal-dominant and can be caused by mutations in the dentin sialophosphoprotein gene (DSPP, 4q21.3). We recruited 23 members of a four-generation kindred, including ten persons with dentin defects, and tested the hypothesis that these defects are linked to DSPP. The primary dentition showed amber discoloration, pulp obliteration, and severe attrition. The secondary dentition showed either pulp obliteration with bulbous crowns and gray discoloration or thistle-tube pulp configurations, normal crowns, and mild gray discoloration. Haplotype analyses showed no recombination between three 4q21-q24 markers and the disease locus. Mutational analyses identified no coding or intron junction sequence variations associated with affection status in DMP1, MEPE, or the DSP portion of DSPP. The defects in the permanent dentition were typically mild and consistent with a diagnosis of DD-II, but some dental features associated with DGI-II were also present. We conclude that DD-II and DGI-II are milder and more severe forms, respectively, of the same disease.

KEY WORDS: dentin • dentin sialophosphoprotein • DSPP • dentinogenesis imperfecta • dentin dysplasia

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