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The classification and prevalence of amelogenesis imperfecta is updated based upon new information in the literature. Problems with the currently used classification of inherited dentin defects are discussed.
Dentinogenesis Imperfecta (DI), in which the teeth are discolored, translucent and brittle, can occur in isolation as a familial trait and as a component of the skeletal dysplasia Osteogenesis Imperfecta (OI). In a Cape Town family, 20 persons in 3 generations had mild OI, with the additional manifestation of severe DI. The family was assessed at the Dental Genetic Unit of the University of the Western Cape and appropriate dental treatment was provided. In this setting, a detailed treatment plan was devised for a severely affected woman. This plan proved to be efficient and cost effective, and the final outcome was pleasing to the patient. Dentinogenesis Imperfecta is not uncommon and may well be encountered in conventional dental practice. The necessary clinical expertise is within the scope of the skills of the general dentist.
Dentinogenesis imperfecta (DGI) is an autosomal dominant inherited dental disease which affects dentin production and mineralization. Genetic linkage studies have determined linkage between DGI type II and group-specific component (Gc, vitamin D binding protein), interferon (gamma)-induced cytokine protein 10 (INP10) and secreted phosphoprotein 1 (SSP1, osteopontin, bone sialoprotein 1, early T-lymphocyte activation 1). Therefore, the gene locus has been localized to the long arm of human chromosome 4 in the region 4q13-q21. Dentin matrix protein-1 (DMP-1, AG-1) is a new acidic, phosphorylated dentin extracellular matrix protein which has recently been identified by cDNA cloning. The purpose of this study was to establish the possible association of DMP-1 with DGI type II by determining the human chromosomal localization of this protein. A DMP-1 DNA probe was generated1using PCR amplification of the mouse full-length DMP-1 and labeled with [32P] d-CTP. A panel of rodent somatic cell hybrid clones, previously cytogenetically characterized, was used for the assignment. High stringently DNA hybridization studies and analysis of the chromosomal cell panel indicated that the DMP-1 gene locus is located on human chromosome 4. This data supports the hypothesis that DMP-1 is a candidate gene for the genetic disease DGI type II. This is based on chromosomal localization to human chromosome 4, the expression of DMP-1 mostly by odontoblasts, and its purported physical-chemical properties.
This paper presents a review of dentinogenesis imperfecta occurring in patients with osteogenesis imperfecta. The systemic manifestations and the oral aspects of dentinogenesis imperfecta in osteogenesis imperfecta are discussed, and an illustrative case is described.
Based on four personal cases of osteogenesis imperfecta and dentinogenesis imperfecta, the authors review the semiological elements constituting the syndrome, and assign each case to the Sillence (1979) classification. The author established his classification on clinical criteria and the genetic nature of the various forms of osteogenesis imperfecta, however, the most recent discoveries concerning collagen biochemistry confirm that the condition is without doubt more heterogenous than suggested clinically, thereby better explaining the wide range of mutations encountered.
This case report describes a patient's severe Class III malocclusion, managed with a combination of orthodontic and orthognathic treatment. The medical history was complicated by osteogenesis imperfecta and dentinogenesis imperfecta. In addition the patient was a Jehovah's Witness. Patients with osteogenesis imperfecta carry an increased risk of perioperative haemorrhage, and this led to bimaxillary surgery being carried out as two discrete surgical episodes for the patient described. In addition, the risk of enamel fracture led to orthodontic bands being cemented on all teeth. In spite of the increased risks a successful outcome was achieved.
This paper presents a case of dentinogenesis imperfecta Type I occurring in a patient with familial tarda type osteogenesis imperfecta. The investigation and management of this patient is described.
A genotype-phenotype analysis of a three-generation family segregating for an autosomal-dominant osteogenesis imperfecta (OI) variant is reported here. The family was ascertained through the presentation of a proband concerned about discoloration of her teeth, found to be dentinogenesis imperfecta (DGI). Examination of 36 family members identified 15 individuals with DGI. Linkage studies were performed for genetic markers from candidate intervals known to contain genes responsible for DGI on chromosomes 4q, 7q, and 17q. Conclusive evidence for linkage of DGI was obtained to genetic markers on chromosome 17q21-q22 (DLX-3, Z(max) = 5.34, theta = 0.00). All DGI-affected family members shared a common haplotype, which was not present in individuals without DGI. Haplotype analysis sublocalized the gene to a 5-cM genetic interval that contained the collagen 1 alpha 1 (COL1A1) gene. More than 150 different COL1A1 gene mutations have been associated with various forms of OI, and five of these have been associated with DGI and type IV OI. After excluding these five mutations, mutational analysis was performed on the remaining exons including intron--exon boundaries, which resulted in identification of a Gly559Cys mutation in exon 32, present in all DGI-affected family members. Clinical features segregating with this G559C mutation included hyperextensible joints, joint pain and an increased propensity for bone fractures with moderate trauma. This is the first report of joint pain associated with a COL1A1 mutation and DGI. The mild skeletal features and reduced penetrance of the non-dental findings illustrate the importance of genetic evaluations for families with a history of DGI.
Two semiquantitative scoring systems, Clinical Radiographic Score (CRS) and Dysplastic Dentin Score (DDS), were introduced for analyzing degree of dysplastic manifestations in dentin. The utility of both systems was demonstrated in a large material of teeth from patients with dentinogenesis imperfecta (DI) and osteogenesis imperfecta (OI). Twenty teeth from healthy controls, 81 teeth from 40 patients with OI, and 18 teeth with DI without OI (DI type II) were examined. The degree of dysplasia was correlated with type and form of OI and type of DI. The median DDS did not differ between DI associated with OI (DI type I) and DI type II. DDS in OI patients without clinical signs of DI was above that of control teeth. Both circumpulpal and mantle dentin showed increased DDS, although circumpulpal dentin was more severely affected. The median DDS was highest for the most severe type of non-lethal OI (type III). DDS increased significantly with form (severity) of OI. A significant association between DDS and CRS was found, although diagnosis of DI in less severe cases was not possible based on radiographic or clinical signs alone. Thus, the DDS system proved valuable when the CRS system based on radiographic/clinical manifestations failed, the most significant finding being subclinical histological manifestations of DI in patients with OI but without clinical or radiographic signs of DI. These subtle dysplastic changes are most likely an expression of genetic disturbances associated with OI and should not be diagnosed as DI, but rather be termed histologic manifestations of dysplastic dentin associated with OI.
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