Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia

N. Suda, M. Hattori, Kenjiro Kosaki, A. Banshodani, K. Kozai, K. Tanimoto, K. Moriyama

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Introduction - Cleidocranial dysplasia (CCD, MIM#119600), for which the responsible gene is RUNX2, is a genetic disorder characterized by hypoplasia or aplasia of the clavicles, patent fontaneles, and a short stature. Supernumerary teeth and delayed eruption and impaction of permanent teeth are frequently associated with CCD. Our previous study reported wide intrafamilial variation in supernumerary tooth formation associated with a mutation in the RUNT-domain of RUNX2, suggesting a low correlation between the genotype and supernumerary tooth formation. To further clarify this point, a more precise evaluation was performed. Design - Gene mutational analysis of nine Japanese individuals with CCD was performed. Dental and skeletal characteristics were examined based on patient examinations and radiographs. Results - Four different gene mutations, including one novel mutation in RUNX2 gene (NM_001024630), were identified. Among them, four individuals had the R225Q mutation, three siblings had the P224S mutation, and the other two individuals had different frame-shift mutations. Wide variations in supernumerary tooth formation were observed in individuals with identical gene mutations, and discordance was seen between monozygotic twins. Asymmetric supernumerary tooth formation was noted in five out of the nine individuals. Conclusion - 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.

Original languageEnglish
Pages (from-to)197-202
Number of pages6
JournalOrthodontics and Craniofacial Research
Volume13
Issue number4
DOIs
Publication statusPublished - 2010 Nov

Fingerprint

Cleidocranial Dysplasia
Supernumerary Tooth
Genotype
Mutation
Genes
Tooth
Tooth Eruption
Clavicle
Frameshift Mutation
Inborn Genetic Diseases
Monozygotic Twins
Epigenomics
Siblings

Keywords

  • Cleidocranial dysplasia
  • Gene mutation
  • RUNX2
  • Supernumerary tooth

ASJC Scopus subject areas

  • Orthodontics
  • Oral Surgery
  • Otorhinolaryngology
  • Surgery

Cite this

Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia. / Suda, N.; Hattori, M.; Kosaki, Kenjiro; Banshodani, A.; Kozai, K.; Tanimoto, K.; Moriyama, K.

In: Orthodontics and Craniofacial Research, Vol. 13, No. 4, 11.2010, p. 197-202.

Research output: Contribution to journalArticle

Suda, N. ; Hattori, M. ; Kosaki, Kenjiro ; Banshodani, A. ; Kozai, K. ; Tanimoto, K. ; Moriyama, K. / Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia. In: Orthodontics and Craniofacial Research. 2010 ; Vol. 13, No. 4. pp. 197-202.
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