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Oro-dental phenotype in patients with RUNX2 duplication
Laure Merametdjian1, Tony Prud'Homme2, Cédric Le Caignec3
1Département d'Odontologie Conservatrice et Endodontie, UFR Odontologie, Université de Nantes, France; Service d'Odontologie Conservatrice et Pédiatrique, Centre de compétences Malformations orales et dentaires rares, CHU de Nantes, France; INSERM, U1229, RMeS, Nantes, France.
European Journal of Medical Genetics
|June 1, 2018
Summary
Increased dosage of the RUNX2 gene, crucial for development, causes various dental anomalies including hypodontia and morphological defects. This study details the oro-dental phenotype in a family with a RUNX2 gene duplication.
Area of Science:
- Genetics
- Developmental Biology
- Dentistry
Background:
- Runt-related transcription factor 2 (RUNX2) is essential for bone and tooth development.
- Loss-of-function RUNX2 mutations typically cause cleidocranial dysplasia.
- The oro-dental phenotype associated with increased RUNX2 dosage is not well-characterized.
Observation:
- A unique family presented with a 285 kb duplication encompassing the entire RUNX2 gene.
- This duplication results in an increased dosage of RUNX2, likely leading to three functional copies.
- Four affected individuals exhibited a distinct set of oro-dental anomalies.
Findings:
- Patients displayed anomalies in tooth number, including hypodontia and oligodontia.
- Morphological abnormalities observed were microdontia, radiculomegaly, taurodontism, and dens invaginatus.
- Abnormal tooth position, such as rotation, was also noted.
Implications:
- This study highlights the critical role of RUNX2 dosage in normal tooth development.
- Understanding RUNX2 gene dosage effects expands knowledge of dental anomalies.
- Findings may inform genetic counseling and clinical management for related developmental disorders.
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