Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations

Thaweesapphithak, Sermporn; Saengsin, Jirawat; Kamolvisit, Wuttichart; Theerapanon, Thanakorn; Porntaveetus, Thantrira; Shotelersuk, Vorasuk

doi:10.1590/1678-7757-2022-0028

Cited by 10 publications

(9 citation statements)

References 34 publications

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“…Several RUNX2 mutations have been associated with cleidocranial dysplasia (CCD, MIM #119600), a congenital disease affecting bone growth. 34,35 We previously identified novel C-terminus RUNX2 mutations in CCD patients and observed RUNX2 overexpression in osteogenic differentiated cMSCs of these CCD patients compared to control cells. 23 By culturing MSCs line in the presence or absence of osteogenic medium, we observed in this study an opposite modulation between FBXW11 and RUNX2.…”

Section: Discussionmentioning

confidence: 98%

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Expression of FBXW11 in normal and disease‐associated osteogenic cells

Carbonare

Gomez-Lira

Minoia

et al. 2023

J Cellular Molecular Medi

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The ubiquitin‐proteasome system (UPS) plays an important role in maintaining cellular homeostasis by degrading a multitude of key regulatory proteins. FBXW11, also known as b‐TrCP2, belongs to the F‐box family, which targets the proteins to be degraded by UPS. Transcription factors or proteins associated with cell cycle can be modulated by FBXW11, which may stimulate or inhibit cellular proliferation. Although FBXW11 has been investigated in embryogenesis and cancer, its expression has not been evaluated in osteogenic cells. With the aim to explore FBXW11gene expression modulation in the osteogenic lineage we performed molecular investigations in mesenchymal stem cells (MSCs) and osteogenic cells in normal and pathological conditions. In vitro experiments as well as ex vivo investigations have been performed. In particular, we explored the FBXW11 expression in normal osteogenic cells as well as in cells of cleidocranial dysplasia (CCD) patients or osteosarcoma cells. Our data showed that FBXW11 expression is modulated during osteogenesis and overexpressed in circulating MSCs and in osteogenically stimulated cells of CCD patients. In addition, FBXW11 is post‐transcriptionally regulated in osteosarcoma cells leading to increased levels of beta‐catenin. In conclusion, our findings show the modulation of FBXW11 in osteogenic lineage and its dysregulation in impaired osteogenic cells.

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Section: Discussionmentioning

confidence: 98%

“…Several RUNX2 mutations have been associated with cleidocranial dysplasia (CCD, MIM #119600), a congenital disease affecting bone growth. 34 , 35 …”

Section: Discussionmentioning

confidence: 99%

Expression of FBXW11 in normal and disease‐associated osteogenic cells

Carbonare

Gomez-Lira

Minoia

et al. 2023

J Cellular Molecular Medi

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“…Exome sequencing is effective at identifying mutations across ethnic groups, according to the study. The Runt homology domain is essential for RUNX2 function, as evidenced by the two p.Arg225 variants [71].…”

Section: Precision Medicine and Cleidocranial Dysplasiamentioning

confidence: 99%

Precision Medicine in Oral Health and Diseases: A Systematic Review

Malcangi

Patano

Guglielmo

et al. 2023

JPM

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Precision medicine (PM) is personalized medicine that can develop targeted medical therapies for the individual patient, in which “omics” sciences lead to an integration of data that leads to highly predictive models of the functioning of the individual biological system. They enable rapid diagnosis, assessment of disease dynamics, identification of targeted treatment protocols, and reduction of costs and psychological stress. “Precision dentistry” (DP) is one promising application that need further investigation; the purpose of this paper is therefore to give physicians an overview of the knowledge they need to enhance treatment planning and patient response to therapy. A systematic literature review was conducted on the PubMed, Scopus, and Web of Science databases by analyzing the articles examining the role of precision medicine in dentistry. PM aims to shed light on cancer prevention strategies, by identifying risk factors, and on malformations such as orofacial cleft. Another application is pain management by repurposing drugs created for other diseases to target biochemical mechanisms. The significant heritability of traits regulating bacterial colonization and local inflammatory responses is another result of genomic research, and is useful for DP in the field of caries and periodontitis. This approach may also be useful in the field of orthodontics and regenerative dentistry. The possibility of creating an international network of databases will lead to the diagnosis, prediction, and prevention of disease outbreaks, providing significant economic savings for the world’s health care systems.

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“…In patients with a clinical diagnosis of CCD, the RUNX2 mutations are detected in about 60–70%. The genetic conditions in the remaining 30–40% of the cases are still unknown [ 1 , 6 , 7 ]. For dentists the diagnosis can be more difficult because the limited availability of diagnostic modality in most of the dental institutions.…”

Section: Introductionmentioning

confidence: 99%

Detection and diagnosis of cleidocranial dysplasia by panoramic radiography: a retrospective study

Shi

Liu

et al. 2022

BMC Oral Health

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Background Cleidocranial dysplasia (CCD) is a rare and underdiagnosed congenital disorder in dentistry. The purpose of this study was to illustrate and quantify the maxillofacial bone abnormalities detected on panoramic radiographs from a relatively large retrospective case series and to provide a series of diagnostic references for dentists to indicate the presence of disease and help in making an early and accurate diagnosis. Methods The dental panoramic radiographs of thirty CCD patients aged 11 to 45 years (18 males and 12 females) were examined retrospectively. The dentition states, including supernumerary teeth and impacted teeth, were recorded. Twelve quantified measurements were adopted to determine the abnormalities of maxillofacial bones, including the degree of the zygomatic arch downward bend, bicondylar breadth, ramal height, mandibular height, mandibular aspect ratio, mandibular body height, condylar height, coronoid height, distance between the coronoid process and the condyle, bigonial width, gonial angle and best-fit gonial circle diameter. The Wilcoxon rank-sum test was used to compare the findings of the CCD patients with those of their matched controls (n = 300). Results Supernumerary teeth were detected in 27 patients (90.0%), and all 30 patients presented impacted teeth. Compared to the matched controls, the CCD patients had a significantly larger degree of zygomatic arch downward bend (ZAD), a larger diameter of the best-fit gonial circle (BGC), and a shorter distance between the coronoid process and the condyle (DCC) in panoramic radiographs (P < 0.001). According to the reference cutoff values established from the 5th or 95th percentile of the measurements in the control group, ZAD higher than 6.90 mm, DDC less than 22.37 mm and BGC higher than 52.41 mm were significantly associated with the CCD features identified. Other panoramic measurements were not significantly different between the two groups. Conclusions Panoramic radiographs had great value in the diagnosis of CCD. In this study, we identified some dental and maxillofacial features on panoramic radiographs from a relatively large retrospective case series of CCD. A series of reliable quantitative indicators were provided for dentists that can indicate the presence of disease and improve the diagnostic specificity.

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Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations

Cited by 10 publications

References 34 publications

Expression of FBXW11 in normal and disease‐associated osteogenic cells

Expression of FBXW11 in normal and disease‐associated osteogenic cells

Precision Medicine in Oral Health and Diseases: A Systematic Review

Detection and diagnosis of cleidocranial dysplasia by panoramic radiography: a retrospective study

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