Clear Aligners in Patients with Amelogenesis and Dentinogenesis Imperfecta

Dentinogenesis imperfecta (DI) and amelogenesis imperfecta (AI) are hereditary abnormalities of dental hard tissues. Dental abnormalities may also be accompanied by symptoms of disorders such as osteogenesis imperfecta. AI and DI have a significant burden on socializing, function, and comfort; therefore, frequent screening and accurate diagnosis is the cornerstone of managing such conditions. Both AI and DI could be treated with many strategies, including restorative, prosthetic, periodontal, surgical, and orthodontics treatment. The interdisciplinary combination of orthodontic, prosthodontic, and periodontic treatment has been proven to improve the prognosis of AI and DI. Regarding orthodontic treatment, the most difficult element of orthodontic therapy may be maintaining a high level of motivation for what might be a prolonged form of treatment spanning several years. There are many forms of orthodontic management for AI and DI, including removable appliances, functional appliances, and fixed appliances. Clear aligner therapy (CAT) contains a broad range of equipment that works in different ways, has different construction processes, and is compatible with different malocclusion procedures. The application of CAT in patients with AI and DI is favorable over the fixed applicants. However, the available evidence regarding the application of CAT in AI is weak and heterogeneous. In this review, we discussed the current evidence regarding the application of clear CAT in patients with AI and DI.

Prevalence and Current Status of Dental Treatment for Amelogenesis Imperfecta and Dentinogenesis Imperfecta using National Health Insurance Database

The aim of this study was to determine the prevalence and incidence and evaluate the current status of dental treatment of Amelogenesis imperfecta (AI) and Dentinogenesis imperfecta (DI) in South Korea. The data was based on National Health Insurance Service (NHIS)-National Sample Cohort Database (2002 - 2015) and Jeonbuk National University (JBNU) Dental Hospital (2011 - 2020). The NHIS data analysis showed prevalence of AI and DI were 11.6 and 2.4 per 100,000 people, respectively. The annual incidence of AI and DI for 2013 - 2015 were 2.2 and 0.5 per 100,000. There were no statistically significant differences regarding the number of visits, the reimbursable cost among AI, DI patients and others. In the patient analysis of the JBNU dental hospital, proportion of the reimbursable and non-reimbursable cost for AI patients were 12.1% and 87.9%, while DI patients accounted for 18.6% and 81.4%.

Mouse Dspp frameshift model of human dentinogenesis imperfecta

Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein (DSPP): 5′ mutations affecting an N-terminal targeting sequence and 3′ mutations that shift translation into the − 1 reading frame. DSPP defects cause an overlapping spectrum of phenotypes classified as dentin dysplasia type II and dentinogenesis imperfecta types II and III. Using CRISPR/Cas9, we generated a Dspp−1fs mouse model by introducing a FLAG-tag followed by a single nucleotide deletion that translated 493 extraneous amino acids before termination. Developing incisors and/or molars from this mouse and a DsppP19L mouse were characterized by morphological assessment, bSEM, nanohardness testing, histological analysis, in situ hybridization and immunohistochemistry. DsppP19L dentin contained dentinal tubules but grew slowly and was softer and less mineralized than the wild-type. DsppP19L incisor enamel was softer than normal, while molar enamel showed reduced rod/interrod definition. Dspp−1fs dentin formation was analogous to reparative dentin: it lacked dentinal tubules, contained cellular debris, and was significantly softer and thinner than Dspp+/+ and DsppP19L dentin. The Dspp−1fs incisor enamel appeared normal and was comparable to the wild-type in hardness. We conclude that 5′ and 3′ Dspp mutations cause dental malformations through different pathological mechanisms and can be regarded as distinct disorders.

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G&#x3e;A (p.Arg168His) missense mutation in <i>IRX5</i> in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.

Características mecánicas de los agentes adhesivos en dientes con dentinogenesis imperfecta

Introducción: El desarrollo de la odontología conservadora ha generado el surgimiento y evolución de los sistemas adhesivos; los procesos de adhesión dependen del material, la experiencia del operador, las características del tejido y del control de las condiciones locales. La dentinogenesis imperfecta (DI) es una condición del desarrollo del diente que afecta el tejido dentinario, en la cual se ven comprometidas tanto la dentición temporal como permanente. Objetivos: Evaluar el comportamiento mecánico de los sistemas adhesivos en dientes sanos y dientes con DI. Materiales y métodos: Se realizaron 10 pruebas de microtensión en dientes sanos y 10 pruebas de microtensión en dientes con DI; Se verificó la distribución normal de los datos con la prueba Kolmororov – Smirnof, Se utilizó la prueba t student para analizar las diferencias entre los grupos con respecto a los valores de microtensión, además se utilizó la prueba taub de Kendall para establecer correlación entre dientes y tipo de falla. Resultados: Los dientes con dentinogenesis imperfecta presentan un grado de adhesión significativamente menor con respecto a los dientes sanos. Conclusión: Los dientes con DI presentan fallas en la adhesión debido a la estructura macro y microscópica, sin embargo, presentaron cierto grado de adhesión.

Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2

Hereditary dentin defects can be categorized as a syndromic form predominantly related to osteogenesis imperfecta (OI) or isolated forms without other non-oral phenotypes. Mutations in the gene encoding dentin sialophosphoprotein (DSPP) have been identified to cause dentinogenesis imperfecta (DGI) Types II and III and dentin dysplasia (DD) Type II. While DGI Type I is an OI-related syndromic phenotype caused mostly by monoallelic mutations in the genes encoding collagen type I alpha 1 chain (COL1A1) and collagen type I alpha 2 chain (COL1A2). In this study, we recruited families with non-syndromic dentin defects and performed candidate gene sequencing for DSPP exons and exon/intron boundaries. Three unrelated Korean families were further analyzed by whole-exome sequencing due to the lack of the DSPP mutation, and heterozygous COL1A2 mutations were identified: c.3233G>A, p.(Gly1078Asp) in Family 1 and c.1171G>A, p.(Gly391Ser) in Family 2 and 3. Haplotype analysis revealed different disease alleles in Families 2 and 3, suggesting a mutational hotspot. We suggest expanding the molecular genetic etiology to include COL1A2 for isolated dentin defects in addition to DSPP.

Comparison of Long-term Prognosis in Siblings with Dentinogenesis Imperfecta depending on the Timing of the Treatment Intervention : Case Reports

Dentinogenesis imperfecta (DI) is a hereditary disorder of dentinal defect. It is generally inherited as a single autosomal dominant trait. DI usually affects both the primary and permanent dentition. Affected teeth have various types of discolorations, rapid destruction of the dentin, and severe attrition. In radiologic view, the affected teeth have bulbous crowns, short roots and narrow or closed pulp chambers. The treatment objective is to prevent additional attrition and recover the vertical dimension of occlusion.The aim of this report was to present the long-term prognosis in 15 years in a pair of siblings. Both the patients had DI with tooth attrition and discoloration. Different treatment procedures were used, depending on the difference in the timing of intervention. The first patient saved most of his teeth. The second patient had all of her teeth extracted. This report could be helpful for early diagnosis and overall treatment of DI.

Effects of DSPP Gene Mutations on Periodontal Tissues

Dentin sialophosphoprotein (DSPP) gene mutations cause autosomal dominantly inherited diseases. DSPP gene mutations lead to abnormal expression of DSPP, resulting in a series of histological, morphological, and clinical abnormalities. A large number of previous studies demonstrated that DSPP is a dentinal-specific protein, and DSPP gene mutations lead to dentin dysplasia and dentinogenesis imperfecta. Recent studies have found that DSPP is also expressed in bone, periodontal tissues, and salivary glands. DSPP is involved in the formation of the periodontium as well as tooth structures. DSPP deficient mice present furcation involvement, cementum, and alveolar bone defect. We speculate that similar periodontal damage may occur in patients with DSPP mutations. This article reviews the effects of DSPP gene mutations on periodontal status. However, almost all of the research is about animal study, there is no evidence that DSPP mutations cause periodontium defects in patients yet. We need to conduct systematic clinical studies on DSPP mutation families in the future to elucidate the effect of DSPP gene on human periodontium.

Dentinogenesis Imperfecta and Caries in Osteogenesis Imperfecta among Vietnamese Children

Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility and low bone mass, caused mainly by mutations in collagen type I encoding genes. The current study aimed to evaluate dentinogenesis imperfecta (DI), oral manifestations and caries status of OI children. Sixty-eight children (41 males, 27 females) aged from 3 to 17 years old (mean 9 ± 4.13) participated in the study. Participants were classified into three OI type groups (I—2 cases, III—31 cases and IV—35 cases). Clinical examination and an orthopantomogram were used to obtain prevalences and associations of DI, caries status, malocclusion, crossbite, open bite, eruption, impaction and missing teeth with OI. The prevalence of DI among OI patients was 47.1%, more common in OI type III than type IV. The yellow-brown discoloration type was more vulnerable to attrition than the opalescent-grey one in the primary dentition. OI seemed not to have a high risk of caries; the prevalence of caries was 69.1%. A high incidence of malocclusion, crossbite and open bite was observed. In-depth oral information would provide valuable data for better dental management in OI patients. Parents and general doctors should pay more attention to dental care to prevent caries and premature tooth loss.