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European Journal of Medical Genetics Dec 2019Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and craniofacial...
Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and craniofacial phenotype has not been described in detail, which we therefore undertook to evaluate in a multicenter study (Brittle Bone Disease Consortium). Fourteen individuals with OI type V (age 3-50 years; 10 females, 4 males) underwent dental and craniofacial assessment. None of the individuals had dentinogenesis imperfecta. Six of the 9 study participants (66%) for whom panoramic radiographs were obtained had at least one missing tooth (range 1-9). Class II molar occlusion was present in 8 (57%) of the 14 study participants. The facial profile was retrusive and lower face height was decreased in 8 (57%) individuals. Cephalometry, performed in three study participants, revealed a severely retrusive maxilla and mandible, and moderately to severly retroclined incisors in a 14-year old girl, a protrusive maxilla and a retrusive mandible in a 14-year old boy. Cone beam computed tomograpy scans were obtained from two study participants and demonstrated intervertebral disc calcification at the C2-C3 level in one individual. Our study observed that OI type V is associated with missing permanent teeth, especially permanent premolar, but not with dentinogenesis imperfecta. The pattern of craniofacial abnormalities in OI type V thus differs from that in other severe OI types, such as OI type III and IV, and could be described as a bimaxillary retrusive malocclusion with reduced lower face height and multiple missing teeth.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Male; Middle Aged; Osteogenesis Imperfecta; Phenotype
PubMed: 30593885
DOI: 10.1016/j.ejmg.2018.12.011 -
Journal of Oral Biology and... 2022DSPP is known to be important in the formation of dentin. In DSPP's absence, a severely hypomineralized dentin is formed, in a condition known as dentinogenesis...
DSPP is known to be important in the formation of dentin. In DSPP's absence, a severely hypomineralized dentin is formed, in a condition known as dentinogenesis imperfecta (DGI). DSPP has recently been found in several different tissues, including the mandibular condylar cartilage and craniofacial skeleton. However, there is limited literature on the role of DSPP in these tissues. Therefore, the objective of the present study was to investigate the role of DSPP in craniofacial development. Two mice strains, DSPP knockout and C57BL/6J wild type, were compared at 1, 3, and 6-months of age. Skulls and condyles were investigated through morphological and histological analyses. Cell culture was also conducted to investigate the potential effects of DSPP absence in osteoblasts from the calvaria. Mineralization defects were noticed in the structures of skulls and MCC, with the most significant impact at 1 month of age. DSPP is an essential protein for the normal mineralization of craniofacial tissues.
PubMed: 36062256
DOI: 10.1016/j.jobcr.2022.08.010 -
Bone Jun 2021Dental anomalies in Osteogenesis imperfecta (OI), such as tooth discoloration, pulp obliteration (calcified dental pulp space), and taurodontism (enlarged dental pulp...
INTRODUCTION
Dental anomalies in Osteogenesis imperfecta (OI), such as tooth discoloration, pulp obliteration (calcified dental pulp space), and taurodontism (enlarged dental pulp space) vary between and within patients. To better understand the associations and variations in these anomalies, a cross-sectional study was designed to analyze the dental phenotype in OI patients at the individual tooth type.
METHOD
A cohort of 171 individuals with OI type I, III and IV, aged 3-55 years, were recruited and evaluated for tooth discoloration, pulp obliteration, and taurodontism at the individual tooth level, using intraoral photographs and panoramic radiographs.
RESULTS
Genetic variants were identified in 154 of the participants. Patients with Helical α1 and α2 glycine substitutions presented the highest prevalence of tooth discoloration, while those with α1 Haploinsufficiency had the lowest (<10%). C-propeptide variants did not cause discoloration but resulted in the highest pulp obliteration prevalence (~%20). The prevalence of tooth discoloration and pulp obliteration was higher in OI types III and IV and increased with age. Tooth discoloration was mainly observed in teeth known to have thinner enamel (i.e. lower anterior), while pulp obliteration was most prevalent in the first molars. A significant association was observed between pulp obliteration and tooth discoloration, and both were associated with a lack of occlusal contact. Taurodontism was only found in permanent teeth and affected mostly first molars, and its prevalence decreased with age.
CONCLUSION
The dental phenotype evaluation at the tooth level revealed that different genetic variants and associated clinical phenotypes affect each tooth type differently, and genetic variants are better predictors of the dental phenotype than the type of OI. Our results also suggest that tooth discoloration is most likely an optical phenomenon inversely proportional to enamel thickness, and highly associated with pulp obliteration. In turn, pulp obliteration is proportional to patient age, it is associated with malocclusion and likely related to immature progressive dentin deposition. Taurodontism is an isolated phenomenon that is probably associated with delayed pulpal maturation.
Topics: Cross-Sectional Studies; Dentinogenesis Imperfecta; Humans; Osteogenesis Imperfecta; Phenotype; Tooth
PubMed: 33741542
DOI: 10.1016/j.bone.2021.115917 -
Journal of Bone and Mineral Metabolism May 2021Osteogenesis imperfecta (OI) is a well-known heritable disorder of connective tissue characterized by skeletal fragility and low bone mass. Nearly 90% of patients with...
INTRODUCTION
Osteogenesis imperfecta (OI) is a well-known heritable disorder of connective tissue characterized by skeletal fragility and low bone mass. Nearly 90% of patients with OI have disease variants in COL1A1 and COL1A2 that encode for the α1 and α2 chains of type I collagen.
MATERIALS AND METHODS
A retrospective analysis of 185 probands who were diagnosed with OI in Shanghai Jiao Tong University Affiliated Sixth People's Hospital from March 2005 to December 2019 was performed.
RESULTS
A total of 140 mutations in COL1A1 and 45 mutations in COL1A2 were identified, of which 18 variations were novel. In the phenotype analysis, there were more sporadic cases than familial OI cases in China (54.6% vs. 45.4%, P < 0.001). A total of 98.9% of patients presented with a fracture history. The most common fracture sites were extremity long bones (femur, tibia-fibula and radius-ulna accounted for 36.6%, 17.1% and 11.7%, respectively). Patients with OI types III and IV, especially type III, had a higher proportion of dentinogenesis imperfecta (DI) than patients with OI type I (55% vs. 28%, P < 0.001). Interestingly, G767S and D1219N in COL1A1 and G337S in COL1A2 were the most frequent (3.52%, 2.11% and 8.89%, respectively), which seem to be hotspot mutations in the COL1A1 and COL1A2 genes in Chinese patients.
CONCLUSIONS
This study describes the mutations in the main pathogenic genes, COL1A1 and COL1A2, and the clinical characteristics of osteogenesis imperfecta in China. Furthermore, these findings help reveal the genetic basis of Asian OI patients and contribute to genetic counselling.
Topics: Adolescent; Adult; Aged; Asian People; Child; Child, Preschool; China; Collagen Type I; Female; Femur; Fractures, Bone; Genetic Association Studies; Haploinsufficiency; Humans; Infant; Male; Middle Aged; Mutation; Osteogenesis Imperfecta; Phenotype; Retrospective Studies; Young Adult
PubMed: 33070251
DOI: 10.1007/s00774-020-01163-5 -
European Archives of Paediatric... Feb 2024Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation,...
BACKGROUND
Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation, respectively. Children and young people may be adversely affected by these conditions, with significant reduction in oral health related quality of life. Dental management of children with AI and DI is often complex, which is exacerbated by the absence of clear referral pathways and scarce evidence-based guidelines.
METHOD
The need for increased knowledge and peer support led to the development of a group of UK paediatric dentists with a special clinical interest in the management of children with AI and DI.
PURPOSE
The aims of this paper are to describe the establishment of an AI/DI Clinical Excellence Network (AI/DI CEN) in paediatric dentistry including outputs and future plans, and to share our collective learning to help support others anywhere in the world advance the care of people with AI or DI.
Topics: Child; Humans; Adolescent; Amelogenesis Imperfecta; Dentinogenesis Imperfecta; Quality of Life; Dentin; United Kingdom
PubMed: 38308725
DOI: 10.1007/s40368-023-00859-2 -
General Dentistry 2021Dentinogenesis imperfecta type 2, also referred to as Capdepont teeth and hereditary opalescent dentin, is a rare hereditary dysplasia affecting the dentin that occurs...
Dentinogenesis imperfecta type 2, also referred to as Capdepont teeth and hereditary opalescent dentin, is a rare hereditary dysplasia affecting the dentin that occurs during the histodifferentiation stage of tooth development. The resulting brownish gray opalescent hue creates an unesthetic appearance. This form of dentin anomaly occurs in approximately 1 in 8000 individuals in the United States. Teeth affected by hereditary dentin dysplasia chip easily, even under normal masticatory forces; however, as a result of underlying sclerotic dentin formation and obliteration of pulp chambers in response to attrition, these teeth are not hypersensitive. This case report describes this rare anomaly in a 27-year-old woman, whose discolored teeth were restored with ceramic laminate veneers.
Topics: Adult; Ceramics; Dentin; Dentinogenesis Imperfecta; Female; Humans; Tooth
PubMed: 34678748
DOI: No ID Found -
Cureus Oct 2022Disturbances seen during tooth formation result in developmental dental anomalies presenting in the oral cavity. These anomalies manifest as discrepancies in the...
BACKGROUND
Disturbances seen during tooth formation result in developmental dental anomalies presenting in the oral cavity. These anomalies manifest as discrepancies in the number, color, size, and shape of the teeth. These dental anomalies can either be acquired, congenital, or developmental. Their early detection and management are necessary as they affect aesthetics and occlusion. The study had the aim of gauging the prevalence of developmental anomalies in the permanent dentition of Indian subjects.
METHODS
A total of 1192 participants recruited from the institute for study purposes, comprising males and females, were examined clinically and radiographically, and their dental casts were also evaluated. These subjects were assessed for anomalies in position, structure, number, and/or shape. Anomalies in the position include transmigration, transportation, and/or ectopic position; anomalies in the structure, including dentinogenesis imperfecta or amelogenesis imperfecta; anomalies in number, including hyperdontia or hypodontia; and anomalies in shape, including peg laterals, taurodontism, fusion, dens evaginatus, talon cusp, and/or microdontia.
RESULTS
A statistically significant difference was seen in unilateral microdontia and dentinogenesis imperfecta between males and females, with attained p-values of 0.003 and 0.06, respectively. The results of the present study showed that 9.89% (n = 118) study subjects, whereas 1% (n = 12) study subjects had two dental anomalies in their permanent dentitions, with no subject presenting more than two dental anomalies, showing that various dental anomalies have a low prevalence in the Indian population.
CONCLUSION
The present study has led to the conclusion that the prevalence of dental anomalies is low in Indian subjects. However, these anomalies should be detected and treated early to prevent them from causing further complications.
PubMed: 36397922
DOI: 10.7759/cureus.30156 -
Calcified Tissue International Apr 2024Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the...
Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the pathogenic variants responsible for OI are in the type I collagen genes, COL1A1 and COL1A2, with the remaining pathogenic OI variants spanning at least 20 additional genetic loci that often involve type I collagen post-translational modification, folding, and intracellular transport as well as matrix incorporation and mineralization. In addition to being the most abundant collagen in the body, type I collagen is an important structural and extracellular matrix signaling molecule in multiple organ systems and tissues. Thus, OI disease-causing variants result not only in skeletal fragility, decreased bone mineral density (BMD), kyphoscoliosis, and short stature, but can also result in hearing loss, dentinogenesis imperfecta, blue gray sclera, cardiopulmonary abnormalities, and muscle weakness. The extensive genetic and clinical heterogeneity in OI has necessitated the generation of multiple mouse models, the growing awareness of non-skeletal organ and tissue involvement, and OI being more broadly recognized as a type I collagenopathy.This has driven the investigation of mutation-specific skeletal and extra-skeletal manifestations and broadened the search of potential mechanistic therapeutic strategies. The purpose of this review is to outline several of the extra-skeletal manifestations that have recently been characterized through the use of genetically and phenotypically heterogeneous mouse models of osteogenesis imperfecta, demonstrating the significant potential impact of OI disease-causing variants as a collagenopathy (affecting multiple organ systems and tissues), and its implications to overall health.
PubMed: 38641703
DOI: 10.1007/s00223-024-01213-4 -
Journal of Prosthodontics : Official... Oct 2022Type II dentinogenesis imperfecta is an autosomal dominant condition that affects dentin which increases the complexity of the predictability of restorative treatment....
Type II dentinogenesis imperfecta is an autosomal dominant condition that affects dentin which increases the complexity of the predictability of restorative treatment. Computer-aided design and computer-aided manufacturing (CAD-CAM) technologies permit the creation of highly accurate devices and dental prostheses that simplify the planning and execution of advanced implant surgery and full-mouth rehabilitation. This clinical report presents the interdisciplinary management of a 20-year-old male with dentinogenesis imperfecta type II. In this article, a combination of analog and CAD-CAM technologies were used to fabricate devices that aided planning, assisted intermaxillary fixation and implant placement, served as interim prostheses, and permitted the accurate establishment of esthetics and occlusion of the definitive full-arch prostheses.
Topics: Adult; Humans; Male; Young Adult; Computer-Aided Design; Dental Prosthesis Design; Dental Prosthesis, Implant-Supported; Dentinogenesis Imperfecta; Esthetics, Dental; Mouth Rehabilitation; Tooth
PubMed: 35675448
DOI: 10.1111/jopr.13556 -
Bone Reports Jun 2022Metaphyseal corner fractures and posterior rib fractures are thought to only occur in settings of inflicted injury. We describe a case of siblings who presented with...
PURPOSE
Metaphyseal corner fractures and posterior rib fractures are thought to only occur in settings of inflicted injury. We describe a case of siblings who presented with metaphyseal corner fractures and multiple posterior rib fractures who were later found to carry mutations, a rare cause of Osteogenesis Imperfecta (OI) known as Bruck syndrome. This clinical presentation led to a literature review examining fracture types in OI and inflicted injury.
CASES
A 15-month-old male presented with multiple healing fractures of varying ages including posterior rib and metaphyseal corner fractures with no history of significant trauma. He had joint laxity, short stature and Wormian bones. His diagnosis of Bruck Syndrome led to investigations in his sibling at birth, which demonstrated the same fracture pattern including multiple posterior rib and metaphyseal corner fractures. They both had pathogenic compound heterozygous variants.
LITERATURE REVIEW AND RESULTS
We performed a literature review evaluating the fracture pattern in cases investigated for inflicted injury and found to have OI. Fourteen articles reported 78 children with OI initially diagnosed as inflicted injury. Of these children, 71 (91%) were diagnosed with milder forms of OI (Sillence type I and IV). Sixty-four children (81%) had clinical signs of OI including blue sclera, dentinogenesis imperfecta, short stature, joint laxity and limb bowing. Fifteen (19%) children had fractures of high specificity for inflicted injury including metaphyseal corner fractures and posterior rib fractures and 58 (74%) had fractures of moderate specificity for inflicted injury such as bilateral fractures and fractures of different ages.
CONCLUSION
Metaphyseal corner fractures and posterior rib fractures are highly associated with inflicted injury, but they have been reported in children with OI. Bruck syndrome, a rare and severe form of OI can present with metaphyseal and posterior rib fractures, including at birth. When features of OI are present in children with metaphyseal corner fractures and/or posterior rib fractures are present, genetic testing may be warranted.
PubMed: 35242891
DOI: 10.1016/j.bonr.2022.101171