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Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation.
Orthod Craniofac Res. 2007 Nov; 10(4):222-5.OC

Abstract

INTRODUCTION

Cleidocranial dysplasia (CCD, MIM #119600) is an autosomal-dominant disorder characterized by hypoplasia or aplasia of clavicles, patent fontanelles and short stature. The responsible gene has been identified as RUNX2. CCD is also accompanied by characteristic dental abnormalities, e.g. supernumerary teeth, delayed eruption and impaction of permanent teeth. Intrafamilial variations of skeletal abnormalities are reported but those of dental abnormalities are obscure. To clarify this point, a precise examination of the dental features of CCD siblings having identical mutation was performed.

DESIGN

Gene mutational analysis of three Japanese CCD siblings and their father was performed. Skeletal and dental characteristics were examined by the inquiry and radiographs.

RESULTS

Three siblings uniformly showed patent fontanelles and short stature. They and their father had a novel missense mutation in the RUNT-domain (P210S) of RUNX2. The siblings were completely discordant for the dental characteristics with the position and number of supernumerary teeth being completely different. The youngest, a 12-year-old boy, had six supernumerary teeth, which appeared symmetrically around the maxillary canines and mandibular premolars. The second, a 15-year-old girl, had four supernumerary teeth which appeared around the mandibular incisors. The oldest, a 17-year-old boy, had 11 supernumerary teeth, which were symmetrically around the mandibular lateral dentition and asymmetrically around the maxillary incisors and premolars.

CONCLUSION

The present study suggests the involvement of non-genetic or epigenetic regulation in supernumerary tooth formation in CCD.

Authors+Show Affiliations

Department of Maxillofacial Reconstruction and Function, Division of Maxillofacial/Neck Reconstruction, Graduate School, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan. n-suda.mort@tmd.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

17973689

Citation

Suda, N, et al. "Diversity of Supernumerary Tooth Formation in Siblings With Cleidocranial Dysplasia Having Identical Mutation in RUNX2 : Possible Involvement of Non-genetic or Epigenetic Regulation." Orthodontics & Craniofacial Research, vol. 10, no. 4, 2007, pp. 222-5.
Suda N, Hamada T, Hattori M, et al. Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation. Orthod Craniofac Res. 2007;10(4):222-5.
Suda, N., Hamada, T., Hattori, M., Torii, C., Kosaki, K., & Moriyama, K. (2007). Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation. Orthodontics & Craniofacial Research, 10(4), 222-5.
Suda N, et al. Diversity of Supernumerary Tooth Formation in Siblings With Cleidocranial Dysplasia Having Identical Mutation in RUNX2 : Possible Involvement of Non-genetic or Epigenetic Regulation. Orthod Craniofac Res. 2007;10(4):222-5. PubMed PMID: 17973689.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation. AU - Suda,N, AU - Hamada,T, AU - Hattori,M, AU - Torii,C, AU - Kosaki,K, AU - Moriyama,K, PY - 2007/11/2/pubmed PY - 2008/1/17/medline PY - 2007/11/2/entrez SP - 222 EP - 5 JF - Orthodontics & craniofacial research JO - Orthod Craniofac Res VL - 10 IS - 4 N2 - INTRODUCTION: Cleidocranial dysplasia (CCD, MIM #119600) is an autosomal-dominant disorder characterized by hypoplasia or aplasia of clavicles, patent fontanelles and short stature. The responsible gene has been identified as RUNX2. CCD is also accompanied by characteristic dental abnormalities, e.g. supernumerary teeth, delayed eruption and impaction of permanent teeth. Intrafamilial variations of skeletal abnormalities are reported but those of dental abnormalities are obscure. To clarify this point, a precise examination of the dental features of CCD siblings having identical mutation was performed. DESIGN: Gene mutational analysis of three Japanese CCD siblings and their father was performed. Skeletal and dental characteristics were examined by the inquiry and radiographs. RESULTS: Three siblings uniformly showed patent fontanelles and short stature. They and their father had a novel missense mutation in the RUNT-domain (P210S) of RUNX2. The siblings were completely discordant for the dental characteristics with the position and number of supernumerary teeth being completely different. The youngest, a 12-year-old boy, had six supernumerary teeth, which appeared symmetrically around the maxillary canines and mandibular premolars. The second, a 15-year-old girl, had four supernumerary teeth which appeared around the mandibular incisors. The oldest, a 17-year-old boy, had 11 supernumerary teeth, which were symmetrically around the mandibular lateral dentition and asymmetrically around the maxillary incisors and premolars. CONCLUSION: The present study suggests the involvement of non-genetic or epigenetic regulation in supernumerary tooth formation in CCD. SN - 1601-6335 UR - https://www.unboundmedicine.com/medline/citation/17973689/Diversity_of_supernumerary_tooth_formation_in_siblings_with_cleidocranial_dysplasia_having_identical_mutation_in_RUNX2_:_possible_involvement_of_non_genetic_or_epigenetic_regulation_ L2 - https://doi.org/10.1111/j.1601-6343.2007.00404.x DB - PRIME DP - Unbound Medicine ER -