Int J Stomatol

Int J Stomatol ›› 2026, Vol. 53 ›› Issue (4): 554-561.doi: 10.7518/gjkq.2026607

• Review • Previous Articles    

Progress in the dental developmental abnormality phenotype in cleidocranial dysplasia due to mutations in the RUNX2 gene

Tiesong Yin(),Feifei Wang,Yue Wang()   

  1. Dept. of Prosthodontics, School of Stomatology, China Medical University, Shenyang 110000, China
  • Received:2025-03-05 Revised:2026-02-09 Online:2026-07-01 Published:2026-06-25
  • Contact: Yue Wang E-mail:yintiesong_1213@163.com;wangyue_1110@yeah.net
  • Supported by:
    National Natural Science Foundation of China(82001032)

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Abstract:

Cleidocrainal dysplasia is a rare autosomal dominant disorder in which patients tend to have oral manifestations such as retained deciduous teeth, impacted permanent teeth and supernumerary teeth. Currently, RUNX2 is the gene known to be involved in the pathogenesis of CCD, and with the widespread use of high-throughput sequencing technology, more and more types of mutations carried by CCD patients are being discovered. In this paper, we will focus on dental developmental abnormalities in CCD patients, illustrate the association between RUNX2 gene mutations and oral manifestations in CCD patients, and provide new ideas for exploring the pathogenesis of dental developmental abnormalities in CCD patients caused by RUNX2 gene mutations.

Key words: cleidocranial dysplasia, RUNX2 gene mutation, dental developmental abnormality

CLC Number: 

  • R781.6

TrendMD: 

Fig 1

Schematic of the RUNX2 protein (NM_001024630.4) and reported mutations in Chinese patients with CCD"

Tab 1

Comparison of effects of mutation locations on oral manifestations of Chinese patients with CCD"

突变位置例数口腔表征（例/比例）
多生牙恒牙阻生乳牙滞留
Runt结构域4034/85.00%37/92.50%32/80.00%
非Runt结构域4432/72.73%43/97.73%29/65.91%
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[1] Qian Haoliang, Li Sheng, Jiang Hongbing. Cleidocranial dysplasia and dentofacial characterization [J]. Inter J Stomatol, 2018, 45(1): 64-67.
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