Oro-dental phenotype in patients with RUNX2 duplication

European Journal of Medical Genetics
Laure MerametdjianSerena Lopez-Cazaux

Abstract

Runt-related transcription factor 2 (RUNX2) is well-known for its role in bone development and tooth morphogenesis. Most RUNX2 mutations described in the literature result in loss-of-function mutations of RUNX2 responsible for cleidocranial dysplasia, an autosomal dominant disorder. We describe here the oro-dental phenotype of four patients of a unique family with a 285 kb duplication including the entire sequence of RUNX2, likely responsible for three functional copies of the gene, leading to an increased RUNX2 dosage. Several dental anomalies of number (hypodontia or oligodontia), morphology (microdontia, radiculomegaly, taurodontism or dens invaginatus) and tooth position (rotation) were found in these patients.

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Citations

Mar 22, 2020·Scientific Reports·Yutaro KurotakiMasamichi Takami
Mar 25, 2021·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Ludivine Bertonnier-BroutyCyril Charles
Jul 11, 2021·BDJ Open·Manogari ChettyPeter Beighton

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