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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

View larger version (90K): [in a new window]   Figure 1. Pedigree and dental/radiographic features of the phenotype. The four-generation pedigree includes 27 persons (top). The 23 people enrolled in the study are indicated by an asterisk. Oral photographs are shown from three affected individuals (III-4, III-9, IV-2) and one unaffected (IV-1). Radiographs for III-4 and III-9 are shown below their oral photos. Individual III-4 (age 30 yrs) has a mild gray discoloration to her teeth. Her panorex shows thistle-tube pulp chambers. Individual III-9 (age 23 yrs) has more severe discoloration, which is still evident in her lower anterior teeth. All of the maxillary anterior teeth were veneered for esthetic reasons. Bitewing radiographs of the primary teeth, taken at age 5 yrs, show pulpal obliteration and accelerated attrition. An anterior periapical survey, taken at age 17 yrs, shows bulbous crowns and pulpal obliteration. The primary teeth of affected individual IV-2 at age 2 yrs show amber discoloration and coronal translucency, in contrast to the normal dentition of individual IV-1 at age 3 yrs.

View larger version (42K): [in a new window]   Figure 2. Haplotype analysis by 6 polymorphic markers covering the 4q21-24 region. The following 6 polymorphic markers were able to distinguish between 5 and 10 different alleles in this kindred: D4S1592 (8 alleles), D4S392 (5), D4S2964 (6), D4S1534 (5), D4S414 (10), and D4S1572 (5). The alleles for each of these markers, determined for 24 members of the kindred, are shown below the symbol for each participant in the pedigree (A). The alleles for I-1 were deduced from his five offspring. Horizontal lines indicate recombination sites. A line passing through a number indicates that the side of the allele on which the crossover occurred could not be discerned. The diseased alleles are shaded. All of the 10 affected members have allele 4 for D4S1534, allele 6 for D4S414, and allele 2 for D4S1572. The corresponding linkage analysis calculations from MLINK are shown in B. The approximate distances of the 6 markers from the top of chromosome 4 are indicated in centiMorgans (cM). The columns on the right of the chromosome 4 map positions show the LOD scores, assuming recombination frequencies () of zero, 0.1, 0.2, 0.3, and 0.4. Note that the LOD scores were above 3.0 (considered to be statistically significant) for the last 3 markers, when recombination frequencies of zero and 0.1 were assumed. The position of DSPP is between marker D4S2964 and D4S1534.