Department of Medical Genetics, Medical Genetics Research Center, Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Halal Research Center of IRI, FDA, Tehran, Iran.
Fetal Pediatr Pathol. 2021 Oct;40(5):442-454. doi: 10.1080/15513815.2019.1710792. Epub 2020 Jan 26.
Cleidocranial dysplasia (CCD) is a genetic disorder with an autosomal dominant inheritance pattern. CCD characterized by abnormal clavicles, patent sutures and fontenelles, supernumerary teeth and short stature. Approximately 60-70% of CCD patients have mutations in the RUNX2 gene. The RUNX2 gene is an essential transcription factor for chondrocyte maturation, osteoblast differentiation and bone formation. Runx2 regulates mesenchymal cell proliferation in sutures and suture closure by inducing the signaling pathways of the genes of Fgf, Pthlh, hedgehog and Wnt. We summarized molecular genetics aspects of CCD. Approximately 94% of CCD patients have dental anomalies, the most common of which are supernumerary tooth. Dental anomalies are not determined solely by gene mutations of RUNX2, but are also affected by modifier genes, environmental factors, epigenetic factors and copy number variations. a definite diagnosis of CCD should include the patient's clinical history, symptoms and signs, as well as genetic analyses.
颅锁骨发育不全（CCD）是一种常染色体显性遗传模式的遗传疾病。CCD 的特征是锁骨异常、囟门和骨缝未闭、额外牙齿和身材矮小。大约 60-70%的 CCD 患者存在 RUNX2 基因突变。RUNX2 基因是软骨细胞成熟、成骨细胞分化和骨形成的必需转录因子。Runx2 通过诱导 Fgf、Pthlh、hedgehog 和 Wnt 基因的信号通路，调节骨缝中间充质细胞的增殖和骨缝闭合。我们总结了 CCD 的分子遗传学方面。大约 94%的 CCD 患者有牙齿异常，最常见的是多生牙。牙齿异常不仅取决于 RUNX2 基因突变，还受到修饰基因、环境因素、表观遗传因素和拷贝数变异的影响。CCD 的明确诊断应包括患者的临床病史、症状和体征以及遗传分析。
