A DSPP Mutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect

Figure 1

Pedigree, mutational analysis, and clinical photos. (a) Pedigree of the proband’s family. The “plus” symbol indicates members recruited for this study. (b) and (c) DNA sequencing chromatogram of a normal control and an affected individual. The red arrow indicates the mutated nucleotide (c.50C > T). (d) Frontal clinical photo of the proband. The deciduous dentition exhibits severe attrition and marked discoloration. Periapical abscesses are indicated by black arrows. (e) Panoramic radiogram of the proband during treatment at 2.8 yrs of age. The mandibular primary central incisors were extracted, and all primary first molars were treated with stainless steel crowns. Pulp treatment was performed for the maxillary primary lateral incisor, and wide pulp chambers can be identified in the remaining anterior teeth. (f) panoramic radiogram of an affected individual at 29.7 yrs of age (III : 2).