Abstract
PURPOSE: This systematic review aims to consolidate existing genetic and clinical data on non-syndromic dentinogenesis imperfecta (DI) to enhance understanding of its etiology. METHODS: Electronic databases were searched for genetic familial linkage studies published in English without time restrictions. Genetic familial linkage studies that reported cases of Shield's classifications: DI-II, DI-III or DD-II were included. After removing duplicates and excluding non-eligible articles, two reviewers screened relevant articles independently, followed by data extraction. RESULTS: The systematic search identified 3475 articles, with 135 suitable for full-text review and a final 41 that met inclusion criteria. Within this set of studies, 10 conducted a histopathologic examination of teeth from affected participants. DSPP mutations were the most frequently reported, with 59 documented mutations. Four studies identified mutations in COL1A1 and COL1A2, revealing non-syndromic DI cases, predominantly in individuals of Asian descent. Histopathological analysis of affected teeth showed variations in pulp chamber size, dentinal tubule irregularities, enamel malformations, and mineral density reductions, depending on DI phenotype. CONCLUSIONS: This review consolidates genetic and clinical data to advance the understanding of non-syndromic DI. It highlights the role of DSPP, COL1A1 and COL1A2 and the potential involvement of other genes, emphasizing the effectiveness of whole-exome sequencing in identifying causative mutations.