Oro-dental phenotype in patients with RUNX2 duplication

Abstract : Runt-related transcription factor 2 (RUNX2) is well-known for its role in bone development and tooth mor-phogenesis. 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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Laure Merametdjian, Tony Prud’homme, Cédric Le Caignec, Bertrand Isidor, Serena Lopez-Cazaux. Oro-dental phenotype in patients with RUNX2 duplication. European Journal of Medical Genetics, Elsevier, 2018, Epub ahead of print. ⟨10.1016/j.ejmg.2018.05.019⟩. ⟨inserm-01844233⟩

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