A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies

Abstract

The present study aims to investigate the mutation in a Chinese family with dentin dysplasia type II (DD‐II) and to summarize mutation hotspots, clinical manifestations, and disease management strategies. Phenotype analysis, clinical intervention, mutation screening, and cosegregation analysis within the enrolled family were performed. A summary of the reported mutations in the dentin phosphoprotein (DPP) region of dentin sialophosphoprotein (DSPP) was analyzed. Pathogenicity prediction analysis of the physical properties and function of DSPP variants was performed by bioinformatic processing. Clinical management strategies are discussed. A novel pathogenic mutation (c.2035delA) in the DPP region of DSPP was identified, which was cosegregated in the family. The immature permanent teeth of patients with DD‐II presented with X‐shaped root canal phenotypes. Most of the identified mutations for DD‐II were clustered in the DPP region between nucleotides 1686–2134. Points of differential diagnosis, clinical interventions, and management strategies are proposed. This study revealed a novel DSPP frameshift mutation and presented new clinical features of DD‐II. The locus involving nucleotides 1686–2134 of DSPP may represent a mutational hotspot for the disease. Appropriate management of DD‐II at different stages is important to avoid the development of secondary dental lesions.

Crosstalk between stomatology and medical genetics: Viewpoints of Chinese scholars

“…This special issue comprises nine invited reviews from OGDRD committee members, focusing on congenital dental abnormalities such as hereditary enamel and dentin defects (Dong et al, 2023; Su et al, 2023; Yuan et al, 2023; Zhang et al, 2023), tooth agenesis (Lan et al, 2022), multiple idiopathic cervical root resorption (Wang et al, 2022), craniofacial and oral malformations including non‐syndromic skeletal Class III malocclusion (Zhou et al, 2022), mandibular coronoid process hyperplasia (Wang, 2022), and hemifacial microsomia (Luo et al, 2023).…”

“…In the case of hemifacial microsomia, Luo et al (2023) introduced the OMENS‐Plus classification system to enhance the accuracy of diagnosis and optimize treatment approaches (Luo et al, 2023). Reports demonstrate that molecular‐based enamel or dentin phenotypes may provide valuable insights for the precise diagnosis (Dong et al, 2023; Su et al, 2023; Zhang et al, 2023) and clinical management at different stages of dentin dysplasia to avoid the development of secondary dental lesions (Yuan et al, 2023). Part of syndromic dentin defects have the phenotypes similar to dentinogenesis imperfecta or dentin dysplasia, while others do not.…”

“…The extent of heterogeneity can be attributed to various factors, including the specific pathogenic genes involved, types of mutations, hereditary patterns, X chromosome inactivation, incomplete penetrance, and other mechanisms (Dong et al, 2023; Su et al, 2023). For instance, Yuan et al (2023) uncovered and summarized the mutations in DSPP and their related dentin phenotypes (Yuan et al, 2023). The biological roles of genes involved in syndromic tooth agenesis, enamel, or dentin defects may share similar or distinct mechanisms from non‐syndromic defects.…”