Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the studied population. Here, we report the molecular analysis of 81 patients with OI followed at reference centers in Brazil and France presenting COL1A1 or COL1A2 variants. Patients were submitted to clinical and radiographic dental examinations to diagnose the presence of DI. In addition, a systematic literature search and a descriptive statistical analysis were performed to investigate OI/DI phenotype–genotype correlation in a worldwide sample. In our cohort, 50 patients had COL1A1 pathogenic variants, and 31 patients had COL1A2 variants. A total of 25 novel variants were identified. Overall, data from a total of 906 individuals with OI were assessed. Results show that DI was more frequent in severe and moderate OI cases. DI prevalence was also more often associated with COL1A2 (67.6%) than with COL1A1 variants (45.4%) because COL1A2 variants mainly lead to qualitative defects that predispose to DI more than quantitative defects. For the first time, 4 DI hotspots were identified. In addition, we showed that 1) glycine substitution by branched and charged amino acids in the α2(I) chain and 2) substitutions occurring in major ligand binding regions—MLRB2 in α1(I) and MLBR 3 in α2(I)—could significantly predict DI ( P < 0.05). The accumulated variant data analysis in this study provides a further basis for increasing our comprehension to better predict the occurrence and severity of DI and appropriate OI patient management.

Background Occlusal stability is one of the goals of orthodontic treatment, and keeping teeth aligned in the long term is a challenge for the orthodontist. This study aimed to compare the long-term incisors irregularity and dental arches dimensions changes in subjects treated with 4 premolar extractions with different pretreatment Little's irregularity index (LII). The knowledge of long-term outcomes is evidence-based information for the prognosis of future treatments. Methods In total, 41 treated subjects were divided into two groups according to mandibular Little irregularity value at pretreatment (mild or severe). The maxillary and mandibular LII, transversal, and longitudinal widths were assessed at pretreatment, posttreatment, and 37-year posttreatment. Chi-square and independent t tests were used for intergroup comparison. Results The groups presented similar behavior for all stages of maxillary and mandibular arch dimensions changes. Maxillary irregularity was corrected in both groups after treatment, and the alignment was acceptable in the long term. In the mild group, the mandibular incisor irregularity returned to pretreatment values in the long term. The mandibular LII increased in the severe group but did not return to pretreatment values in the long term. Conclusions The mild crowding group presented proportionally more relapse of mandibular incisor irregularity than the severe crowding group in the long term. Even so, the correction of mild and severe crowding with the extraction of 4 premolars showed satisfactory results in the long term, even with the presence of maturational changes and relapse.