Int J Stomatol

Int J Stomatol ›› 2026, Vol. 53 ›› Issue (4): 562-569.doi: 10.7518/gjkq.2026624

• Review • Previous Articles    

Research progress on the mechanism of ARHGAP29 in non-syndromic cleft lip with or without cleft palate

Meng She(),Jian Ma()   

  1. College of Stomatology, Ningxia Medical University, Ningxia Key Laboratory of Oral Diseases Research, Stomatological Hospital, General Hospital of Ningxia Medical University, Yinchuan 750004, China
  • Received:2025-03-01 Revised:2026-04-24 Online:2026-07-01 Published:2026-06-25
  • Contact: Jian Ma E-mail:15121979678@163.com;majianhs310@163.com
  • Supported by:
    Key Research and Development Program of Ningxia Hui Autonomous Region(2022BEG03159)

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Abstract:

Cleft lip and palate (CL/P) is a prevalent congenital malformation of the craniofacial region, with non-syndromic cleft lip and palate (NSCL/P) representing the majority of cases. The development of NSCL/P is influenced by a combination of genetic and environmental factors. ARHGAP29 gene plays a pivotal role in the pathogenesis of NSCL/P. ARHGAP29 regulates biological processes such as cytoskeletal stability, cell migration, and proliferation, and it contri-butes to normal craniofacial development. This gene likely exerts its function through signaling pathways, including Rho GTPase and Wnt pathways. This review highlights the findings about ARHGAP29, focusing on its gene structure, expression and role in craniofacial development, as well as its mutations in various populations and its interactions with other genes. These insights are essential for understanding the pathogenesis of CL/P.

Key words: ARHGAP29, non-syndromic cleft lip with or without cleft palate, gene mutation, signaling pathway

CLC Number: 

  • R782.2

TrendMD: 

Tab 1

Mutational spectrum of ARHGAP29"

年份研究类型样本含量/人研究方法样本来源突变位点疾病亚型突变类型参考文献
DNA突变位点蛋白质突变位点

2012

群体研究

病例组770，

对照组516

外显子测序

菲律宾

c.62_63delCTp.S21Yfs*20NSCLP移码突变[13]
c.76A>Gp.Thr26AlaNSCLO错义突变
c.3764G>Ap.Asp1255GNSCL/P错义突变
c.888G>Cp.Arg296SerNSCL/P错义突变
c.976A>Tp.Lys326XNSCLP终止突变
c.1252G>Ap.Val418IleNSCL/P错义突变
c.3604G>Tp.Val1202LeuNSCL/P错义突变
c.1847G>Ap.Arg616HisNSCL/P错义突变
c.1865C>Tp.Thr622MetNSCLP错义突变
c.2494G>Ap.Ala832ThrNSCLO错义突变
c.2533A>Gp.Ile845ValNSCLP错义突变
c.3764G>Ap.Asp1255GNSCL/P错义突变

2012

群体研究

病例组280，

对照组456

外显子测序

美国

c.2017T>Gp.Phe673ValNSCL/P错义突变[13]
c.3023G>Ap.Arg1008LysNSCL/P错义突变
c.3425G>Ap.Arg1142GlnNSCL/P错义突变
c.3764G>Ap.Asp1255GNSCL/P错义突变
c.137A>Gp.Lys46ArgNSCLP错义突变
c.1252G>Ap.Val418IleNSCL/P错义突变
c.2864G>Ap.Arg955HisNSCL/P错义突变
c.3604G>Tp.Val1202LeuNSCL/P错义突变
2014群体研究

病例组60，

对照组60

外显子测序印度c. 94A>Tp.Asp32ValNSCLP终止突变[27]
2014群体研究

埃塞俄比亚80，

尼日利亚140

外显子测序埃塞俄比亚、尼日利亚c.2864G>Ap.Arg955HisNSCLP错义突变[28]
c.2738C>Ap.Ser913LeuNSCLO错义突变

2017

群体研究

病例组188（巴西173，英国15）

对照组1 210

下一代测序

巴西、英国

c.3339T>Gp.I1113MNSCL/P错义突变[29]
c.3326_3328 delCAAp.T1109delNSCL/P框内缺失
c.2617C>Tp.R873CNSCL/P错义突变
c.2393G>Ap.R798QNSCL/P错义突变
c.2109+1G>A-NSCL/P剪接位点突变
c.1576+1G>A-NSCL/P剪接位点突变
c.1475C>Ap.S492*NSCL/P终止突变
c.G1252Ap.V418INSCL/P错义突变
c.698-1G>C-NSCL/P剪接位点突变
c.91C>Tp.L31FNSCL/P错义突变
2017家系研究家系（病例5/对照5）外显子测序欧洲c.1654T>Cp.Ser552ProNSCPo错义突变[20]
2020家系研究

家系

（病例4/对照12）

外显子测序中国c.2615C>Tp.A872VNSCLP错义突变[25]
2022家系研究家系（连续2胎患病，病例4/对照2）外显子测序中国c.1920+1G>A-NSCLP，NSCLO剪接位点突变[26]

Fig 1

Hypothetical model of ARHGAP29 functioning through Rho signaling pathway"

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