Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study

Taqi, Doaa; Moussa, Hanan; Schwinghamer, Timothy; Ducret, Maxime; Dagdeviren, Didem; Retrouvey, Jean-Marc; Rauch, Frank; Tamimi, Faleh

doi:10.1016/j.bone.2021.115917

Cited by 12 publications

(19 citation statements)

References 35 publications

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“…Other papers have reported that genetic variants are good predictors of dental phenotype, however, in this case, patients with OI type I (haploinsufficient, mild OI) were compared together with patients with glycine substitutions, that are the moderate-to-severe cases. 24 In the current study, that only includes moderate and severe forms of OI, the genotype did not predict the severity of the cranio-cervical phenotype.…”

Section: Ta B L Econtrasting

confidence: 65%

Cranio‐cervical abnormalities in moderate‐to‐severe osteogenesis imperfecta – Genotypic and phenotypic determinants

Marulanda,

Retrouvey,

Lee

et al. 2023

Orthod Craniofacial Res

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IntroductionCranio‐cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes.ObjectiveTo assess cranio‐cervical anomalies and associated clinical findings in patients with moderate‐to‐severe OI using 3D cone beam computed tomography (CBCT) scans.MethodsCross‐sectional analysis of CBCT scans in 52 individuals with OI (age 10–37 years; 32 females) and 40 healthy controls (age 10–32 years; 26 females). Individuals with a diagnosis of OI type III (severe, n = 11), type IV (moderate, n = 33) and non‐collagen OI (n = 8) were recruited through the Brittle Bone Disorders Consortium. Controls were recruited through the orthodontic clinic of the University of Missouri‐Kansas City (UMKC).ResultsOI and control groups were similar in mean age (OI: 18.4 [SD: 7.2] years, controls: 18.1 [SD: 6.3] years). The cranial base angle was increased in the OI group (OI: mean 148.6° [SD: 19.3], controls: mean 130.4° [SD: 5.7], P = .001), indicating a flatter cranial base. Protrusion of the odontoid process into the foramen magnum (n = 7, 14%) and abnormally located odontoid process (n = 19, 37%) were observed in the OI group but not in controls. Low stature, expressed as height z‐score (P = .01), presence of DI (P = .04) and being male (P = .04) were strong predictors of platybasia, whereas height z‐score (P = .049) alone was found as positive predictor for basilar impression as per the Chamberlain measurement.ConclusionThe severity of the phenotype in OI, as expressed by the height z‐score, correlates with the severity of cranial base anomalies such as platybasia and basilar impression in moderate‐to‐severe OI. Screening for cranial base anomalies is advisable in individuals with moderate‐to‐severe OI, with special regards to the individuals with a shorter stature and DI.

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Section: Ta B L Econtrasting

confidence: 65%

Cranio‐cervical abnormalities in moderate‐to‐severe osteogenesis imperfecta – Genotypic and phenotypic determinants

Marulanda,

Retrouvey,

Lee

et al. 2023

Orthod Craniofacial Res

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“…We may explain that the lower DI prevalence in COL1A1 cases probably results from the “dilution effect” of its qualitative mutations. Taqi et al (2021) showed that the variant type seemed to be a better predictor of the dental phenotype than the OI type itself. Our study showed that the DI phenotype was more frequent in missense, nonframeshift indel, and splice site mutation than in frameshift and nonsense mutation, regardless of the mutated gene.…”

Section: Discussionmentioning

confidence: 99%

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta

et al. 2023

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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.

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“…The dysplastic dentin scale proves the existence of subclinical morphological alterations in teeth apparently without DGI-I. Taqui et al state that pulpar discoloration and obliteration are more frequent in phenotypes III and IV, but establish that the analysis of genetic mutations is a better predictor of the dental phenotype than the type of OI [ 36 ]. Xi et al also state that the clinical manifestation of DGI-I is more frequent in the most severe phenotypes of systemic disease [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

“…In addition, in recent decades, genetic studies have been carried out that have allowed a better understanding of both the etiopathogenesis of OI and its relationship with the systemic and dental phenotypes [ 32 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 ]. Secondary to the early diagnosis of current OI, often even during pregnancy, the vast majority of these subjects have received pharmacological treatment from birth, usually with intravenous bisphosphonates, so it is not surprising that a relationship is found between the period or dose of administration of these drugs and the radiographic results of DGI-I [ 44 ].…”

Section: Discussionmentioning

confidence: 99%

Morphological Study of Dental Structure in Dentinogenesis Imperfecta Type I with Scanning Electron Microscopy

et al. 2022

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Background: Dentinogenesis imperfecta type I (DGI-I) is a hereditary alteration of dentin associated with osteogenesis imperfecta (OI). Aim: To describe and study the morphological characteristics of DGI-I with scanning electron microscopy (SEM). Material and methods: Twenty-five teeth from 17 individuals diagnosed with OI and 30 control samples were studied with SEM at the level of the enamel, dentin–enamel junction (DEJ) and four levels of the dentin, studying its relationship with clinical–radiographic alterations. The variables were analysed using Fisher’s exact test, with a confidence level of 95% and asymptotic significance. Results: OI teeth showed alterations in the prismatic structure in 56%, interruption of the union in the enamel and dentin in 64% and alterations in the tubular structure in all of the cases. There is a relationship between the severity of OI and the morphological alteration of the dentin in the superficial (p = 0.019) and pulpar dentin (p 0.004) regions. Conclusions: Morphological alterations of the tooth structure are found in OI samples in the enamel, DEJ and dentin in all teeth regardless of the presence of clinical–radiographic alterations. Dentin structural anomalies and clinical dental alterations were observed more frequently in samples from subjects with a more severe phenotype of OI.

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Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study

Cited by 12 publications

References 35 publications

Cranio‐cervical abnormalities in moderate‐to‐severe osteogenesis imperfecta – Genotypic and phenotypic determinants

Cranio‐cervical abnormalities in moderate‐to‐severe osteogenesis imperfecta – Genotypic and phenotypic determinants

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta

Morphological Study of Dental Structure in Dentinogenesis Imperfecta Type I with Scanning Electron Microscopy

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