Dentin dysplasia type I—A dental disease with genetic heterogeneity

Abstract

Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2. Mutations of the DSPP gene, which encodes the dentin sialophosphoprotein, a major non-collagenous protein, are responsible for three isolated dentinal diseases: DGI-II, DGI-III, and DD-II. However, DD-I appears to be special in that researchers have found three pathogenicity genes-VPS4B, SSUH2, and SMOC2-in three affected families from different countries. It is believed that DD-I is a genetically heterogeneous disease and is distinguished from other types of dentin disorders. This review summarizes the DD-I literature in the context of clinical appearances, radiographic characteristics, and functions of its pathogenic genes and aims to serve clinicians in further understanding and diagnosing this disease.

Haploinsufficiency of Dspp Gene Causes Dentin Dysplasia Type II in Mice

“…genes (Chen et al, 2019), while DD-II is caused by mutations in the dentin sialophosphoprotein (DSPP) gene. For DGI, there are type I (DGI-I), II (DGI-II), and III (DGI-III).…”

Guided endodontic treatment of multiple teeth with dentin dysplasia: a case report

“…The datasets used and/or analysed during the current case report are available from the corresponding author on reasonable request. Figure 1 Panoramic view of the dentition of a 12-year old female with DD-1: Note the obliterated pulp chambers and root canals of reduced size in all teeth, and periapical radiolucencies in teeth 15,12,26,36,32,31,46.…”

“…In both DD-1 and DD-2, the crowns of primary and permanent teeth mostly have a clinically and morphologically normal appearance and colour (in DD-2, however, the primary teeth are bluish amber-coloured). The affected teeth may exhibit abnormal mobility, premature exfoliation and, particularly in the case of DD-1, undeveloped or absent roots (12).…”

The emerging role of extracellular Ca2+ in osteo/odontogenic differentiation and the involvement of intracellular Ca2+ signaling: From osteoblastic cells to dental pulp cells and odontoblasts

“…Chen, Zhang, Ramachandran, & George, 2016;Rathinam et al, 2015;Villarreal-Ramirez et al, 2014). The mutation of the DSPP gene has been verified to be associated with the pathogenesis of dentin diseases including dentinogenesis imperfecta and dentin dysplasia (D. Chen, Li, et al, 2018). In addition, mutations in Ca 2+ channel or transporter genes often result in tooth channelopathies.…”