Dentinogenesis imperfecta type II in Swedish children and adolescents

Andersson, Kristofer; Malmgren, B.; Albrecht, Eva; Dahllöf, Göran

doi:10.1186/s13023-018-0887-2

Cited by 23 publications

(30 citation statements)

References 27 publications

(34 reference statements)

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“…The differential diagnosis between types I and II is often challenging, possibly due to the rarity of the conditions. The prevalence of DI was recently found to be as few as 1 in 45,000 in Swedish children and adolescents,4 although ORPHANET (ORPHA:71267) cites the prevalence of DI to be <1/1,000,000. DI type III, also called “Brandywine isolate”, is described as an extremely rare form with highest incidence of 1 in 15 in the sub-population of Maryland 5…”

Section: Introductionmentioning

confidence: 99%

<p>Phenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta</p>

Ibrahim¹,

Strange²,

Aguayo³

et al. 2019

IJN

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IntroductionDentinogenesis imperfecta type 1 (OIDI) is considered a relatively rare genetic disorder (1:5000 to 1:45,000) associated with osteogenesis imperfecta. OIDI impacts the formation of collagen fibrils in dentin, leading to morphological and structural changes that affect the strength and appearance of teeth. However, there is still a lack of understanding regarding the nanoscale characterization of the disease, in terms of collagen ultrastructure and mechanical properties. Therefore, this research presents a qualitative and quantitative report into the phenotype and characterization of OIDI in dentin, by using a combination of imaging, nanomechanical approaches.MethodsFor this study, 8 primary molars from OIDI patients and 8 primary control molars were collected, embedded in acrylic resin and cut into longitudinal sections. Sections were then demineralized in 37% phosphoric acid using a protocol developed in-house. Initial experiments demonstrated the effectiveness of the demineralization protocol, as the ATR-FTIR spectral fingerprints showed an increase in the amide bands together with a decrease in phosphate content. Structural and mechanical analyses were performed directly on both the mineralized and demineralized samples using a combination of scanning electron microscopy, atomic force microscopy, and Wallace indentation.ResultsMesoscale imaging showed alterations in dentinal tubule morphology in OIDI patients, with a reduced number of tubules and a decreased tubule diameter compared to healthy controls. Nanoscale collagen ultrastructure presented a similar D-banding periodicity between OIDI and controls. Reduced collagen fibrils diameter was also recorded for the OIDI group. The hardness of the (mineralized) control dentin was found to be significantly higher (p<0.05) than that of the OIDI (mineralized) dentine. Both the exposed peri- and intratubular dentinal collagen presented bimodal elastic behaviors (Young’s moduli). The control samples presented a stiffening of the intratubular collagen when compared to the peritubular collagen. In case of the OIDI, this stiffening in the collagen between peri- and intratubular dentinal collagen was not observed and the exposed collagen presented overall a lower elasticity than the control samples.ConclusionThis study presents a systematic approach to the characterization of collagen structure and properties in OIDI as diagnosed in dentin. Structural markers for OIDI at the mesoscale and nanoscale were found and correlated with an observed lack of increased elastic moduli of the collagen fibrils in the intratubular OIDI dentin. These findings offer an explanation of how structural changes in the dentin could be responsible for the failure of some adhesive restorative materials as observed in patients affected by OIDI.

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Section: Introductionmentioning

confidence: 99%

<p>Phenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta</p>

Ibrahim¹,

Strange²,

Aguayo³

et al. 2019

IJN

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“…Furthermore, our findings indicate that the possibility of undiagnosed OI should be considered in individuals presenting with oligodontia and hypodontia. Further evaluation regarding presence of medical and dental variables associated with OI may be indicated in such evaluation, and have previously been described by us in detail [54]. If suspicion of OI remains, referral to a pediatrician is indicated.…”

Section: Discussionmentioning

confidence: 94%

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta

Andersson

Malmgren

Albrecht

et al. 2020

Orphanet J Rare Dis

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Background: Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causative in approximately 85% of cases. In recent years, recessive variants in genes involved in collagen processing have been found. Hypodontia (< 6 missing permanent teeth) and oligodontia (≥ 6 missing permanent teeth) have previously been reported in individuals with OI. The aim of the present cross-sectional study was to investigate whether children and adolescents with OI and oligodontia and hypodontia also present with variants in other genes with potential effects on tooth development. The cohort comprised 10 individuals (7.7-19.9 years of age) with known COL1A1/A2 variants who we clinically and radiographically examined and further genetically evaluated by whole-genome sequencing. All study participants were treated at the Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm (Sweden's national multidisciplinary pediatric OI team). We evaluated a panel of genes that were associated with nonsyndromic and syndromic hypodontia or oligodontia as well as that had been found to be involved in tooth development in animal models. Results: We detected a homozygous nonsense variant in CREB3L1, p.Tyr428*, c.1284C > A in one boy previously diagnosed with OI type III. COL1A1 and COL1A2 were the only two genes among 9 individuals which carried a pathogenic mutation. We found rare variants with unknown significance in several other genes related to tooth development. Conclusions: Our findings suggest that mutations in COL1A1, COL1A2, and CREB3L1 may cause hypodontia and oligodontia in OI. The findings cannot exclude additive effects from other modifying or interacting genes that may contribute to the severity of the expressed phenotype. Larger cohorts and further functional studies are needed.

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“…Radiograficamente, sinais patognomônicos são observados como coroas bulbosas, com constricção cervical, raízes finas e curtas, além de características de obliteração dos canais radiculares (SHAFER et al, 1987;MONTEBELO et al, 1998;GONÇALVES & GONÇALVES, 1999;GUEDES-PINTO & VAROLI, 2003;SINGH & SINGH, 2004;RUSCHEL et al, 2006;SANTOS, 2006;KAMBOJI & CHANDRA, 2007;SHETTY et al, 2007;FERNANDES et al, 2008;FREITAS et al, 2008;NEVILLE et al, 2008;SUBRAMANIAM et al, 2008;CASEIRO et al, 2009;KANNO & OLIVEIRA, 2009;ANDERSSON et al, 2018). Tanto nos dentes decíduos quanto nos permanentes, a dentinogênese imperfeita apresenta canais radiculares e câmaras pulpares com obliteração progressiva devido à deposição contínua e desordenada de dentina por odontoblastos (DEVARAJU et al, 2014).…”

Section: Particularidades Clínicas Condução Do Tratamento E O Cuidadunclassified

Quedas Em Idosos Institucionalizados: Uma Revisão Integrativa

Moura¹,

Olegário²,

Casemiro³

et al. 2019

Análise Crítica Das Ciências Da Saúde

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Dentinogenesis imperfecta type II in Swedish children and adolescents

Cited by 23 publications

References 27 publications

<p>Phenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta</p>

<p>Phenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta</p>

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta

Quedas Em Idosos Institucionalizados: Uma Revisão Integrativa

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