Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia

Suda, Naoto; Hattori, Masatomo; Kosaki, Kenjiro; Banshodani, A; Kozai, Katsuyuki; K, Tanimoto; Moriyama, Keiji

doi:10.1111/j.1601-6343.2010.01495.x

Cited by 46 publications

(42 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, in eight out of nine cases, MZ co-twins were discordant for the number of supernumerary teeth [62]. A recent study of nine Japanese individuals with cleidocranial dysplasia showed considerable variation in expression of supernumerary teeth in individuals with the same gene mutations, as well as discordance in a pair of monozygotic twins [63]. These findings support the view that supernumerary tooth formation is influenced not only by genetic factors but also by environmental and epigenetic influences (Fig.…”

Section: New Methods Of Shape Analysismentioning

confidence: 58%

Genetic, environmental and epigenetic influences on variation in human tooth number, size and shape

et al. 2011

View full text Add to dashboard Cite

The aim of this review is to highlight some key recent developments in studies of tooth number, size and shape that are providing better insights into the roles of genetic, environmental and epigenetic factors in the process of dental development. Advances in molecular genetics are helping to clarify how epigenetic factors influence the spatial and temporal regulation of the complex processes involved in odontogenesis. At the phenotypic level, the development of sophisticated systems for image analysis is enabling new dental phenotypes to be defined. The 2D and 3D data that are generated by these imaging systems can then be analysed with mathematical approaches, such as geometric morphometric analysis. By gathering phenotypic data and DNA from twins, it is now possible to use 'genome-wide' association studies and the monozygotic co-twin design to identify important genes in odontogenesis and also to clarify how epigenetic and environmental factors can affect this process. Given that many of the common dental anomalies affecting the human dentition are interrelated, apparently reflecting pleiotropic genetic effects, the discoveries and new directions described in this paper should have important implications for clinical dental practice in the future.

show abstract

Section: New Methods Of Shape Analysismentioning

confidence: 58%

Genetic, environmental and epigenetic influences on variation in human tooth number, size and shape

et al. 2011

View full text Add to dashboard Cite

show abstract

“…Intra-oral examination reveal several features, with the most being, hypoplastic teeth, retained primary teeth, delayed eruption of permanent teeth, mesial step molar relationship and CL I canine relationship, which were previously reported in several studies [10][11][12]. Moreover, multiple caries was observed in this case which might be attributed to the poor oral hygiene and diet habit of this patient.…”

Section: Discussionmentioning

confidence: 57%

A 9-year-old Saudi Boy with Cleidocranial Dysplasia: A Case Report

Buainain¹,

Aruveetil²,

Alsineedi³

et al. 2017

AJMCR

View full text Add to dashboard Cite

Cleidocranial dysplasia (CCD) is an uncommon disorder associated with a genetic disorder mainly causing dysplasia of bones and teeth with autosomal dominant inheritance pattern, which has an extremely varied presentation. The dental indicators are principally delayed exfoliation of primary teeth and delayed eruption of permanent teeth, and numerous impacted supernumeraries. This article represent a 9 years old Saudi boy case of CCD and illustrates the clinical and radiological features of this patients. In this case the early diagnosis of the condition was not associated with proper orientation of the dental treatment to offer better quality of life to patient.

show abstract

“…However, in this family no evidence was reported of a coexisting missing tooth. The molecular pathogenesis of CCD is related to the loss of function or haploinsufficiency of RUNX2,7 an osteoblastic-specific transcription factor belonging to the Runt domain gene family that promotes the differentiation of mesenchymal cells into osteoblasts 8. Mutations in the RUNX2 gene in humans cause CCD,9 and the patients present bone dysplasia and extra teeth 2.…”

Section: Discussionmentioning

confidence: 99%

A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene

et al. 2012

View full text Add to dashboard Cite

The RUNX2 gene is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). A 13-month-old child presented with clinical features of CCD. At the age of 3 years the diagnosis was corroborated by clinical genetic assessment and DNA analysis, revealing a missense mutation p.R131C (c.391C>T) in RUNX2. At the age of 8 years the child was found to have a unique dental phenotype, represented by lack of supernumerary teeth and congenital absence of one tooth. A simple therapeutic approach was adopted, consisting of interceptive orthodontic treatment. The presence of this specific missense mutation in RUNX2, associated with the lack of typical supernumerary teeth may suggest a phenotype-genotype association.

show abstract

Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia

Abstract: Individuals with identical gene mutations showed a wide variation in the supernumerary tooth formation. Not only the genotype but also environmental factors and a complex system including epigenetics and copy number variation might regulate supernumerary tooth formation in CCD.

Cited by 46 publications

References 18 publications

Genetic, environmental and epigenetic influences on variation in human tooth number, size and shape

Genetic, environmental and epigenetic influences on variation in human tooth number, size and shape

A 9-year-old Saudi Boy with Cleidocranial Dysplasia: A Case Report

A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene

Contact Info

Product

Resources

About