Merametdjian Laure, Prud'Homme Tony, Le Caignec Cédric, Isidor Bertrand, Lopez-Cazaux Serena
Département 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.
Service d'Odontologie Conservatrice et Pédiatrique, Centre de compétences Malformations orales et dentaires rares, CHU de Nantes, France; Département D'Odontologie Pédiatrique, UFR Odontologie, Université de Nantes, France; Unité d'Investigation Clinique Odontologie (UIC), France.
Eur J Med Genet. 2019 Feb;62(2):85-89. doi: 10.1016/j.ejmg.2018.05.019. Epub 2018 May 29.
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.
runt相关转录因子2（RUNX2）因其在骨骼发育和牙齿形态发生中的作用而闻名。文献中描述的大多数RUNX2突变会导致RUNX2功能丧失突变，从而引发锁骨颅骨发育不全，这是一种常染色体显性疾病。我们在此描述了一个独特家族中四名患者的口腔牙齿表型，该家族存在一个285 kb的重复序列，其中包含RUNX2的完整序列，可能导致该基因出现三个功能拷贝，进而导致RUNX2剂量增加。在这些患者中发现了多种牙齿数量异常（缺牙或少牙）、形态异常（小牙、牙根粗大、牛牙样牙或牙内陷）和牙齿位置异常（旋转）。
