Int J Stomatol

Int J Stomatol ›› 2023, Vol. 50 ›› Issue (5): 573-580.doi: 10.7518/gjkq.2023080

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Research progress on the association between primary failure of tooth eruption and parathyroid hormone receptor 1 gene

Yu Yuelin1(),Kong Weidong2()   

  1. 1.School of Stomatology, Jinan University, Guangzhou 510630, China
    2.Dept. of Orthodontics, The First Affiliated Hospital of Jinan University, Guangzhou 510630, China
  • Received:2023-02-02 Revised:2023-05-20 Online:2023-09-01 Published:2023-09-01
  • Contact: Weidong Kong E-mail:1183929874@qq.com;tkongwd@jnu.edu.cn
  • Supported by:
    Clinical Frontier Technology Program of the First Affiliated Hospital of Jinan University(JNU1AF-CFTP-2022-a01229)

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Abstract:

Primary failure of eruption (PFE) is a rare autosomal dominant hereditary disease mainly characterized by unilateral or bilateral posterior tooth open bite and absence of obvious local hindrance or systemic factors. PFE is related to the abnormal mechanism of tooth eruption. Its etiology is closely related to the mutation of parathyroid hormone receptor 1 (PTH1R) gene, but the underlying mechanism remains to be elucidated. This article reviews the research status of hot gene PTH1R signal defects related to the pathogenesis of PFE and osteoclast function, dental follicle development, alveolar bone formation, periodontal ligament formation, and root formation, to provide reference for the study of etiological genetics and molecular mechanism of PFE.

Key words: primary failure of eruption, parathyroid hormone receptor 1, osteoclast, dental follicle, alveolar bone, periodontal ligament

CLC Number: 

  • Q 754

TrendMD: 

Tab 1

PFE related potentially pathogenic variants in PTH1R"

临床表型染色体位置编码DNA变异位点蛋白质序列改变参考文献
PFE46937391c.313+32A>GN/A[8]
PFE46939352c.322delTp.Cys108ValfsTer82[10]
PFE46939362c.331G>Tp.Glu111Ter[10]
PFE46939387c.356C>Tp.Pro119Leu[16]
PFE46939564c.425G>Tp.Gly142Val[17]
PFE46939575c.436C>Tp. Arg146Ter[18]
PFE46939578c.439C>Tp.Arg147Cys[9]
PFE46939602c.463G>Tp.Glu155Ter[7]
PFE46939644c.505G>Tp.Glu169Ter[15]
PFE46939683c.543+1G>AN/A[7]
PFE46939683c.543+1G>TN/A[10]
PFE46939842c.544-25_544-23delCTGN/A[9]
PFE46939895c.572delAp.Tyr191SerfsTer14[5]
PFE46939957c.636dupTp.Arg213Ter[10,18]
PFE46940150c.639-2A>CN/A[10]
PFE46940150c.639-2A>GN/A[10]
PFE46940325c.813dupTp.Ala272cysfsTer127[18]
PFE46940850c.892T>Gp.Trp298Gly[9]
PFE46940905c.947C>Ap.Ser316Ter[9]
PFE46942515c.989G>Tp.Gly330Val[9]
PFE46942519c.996dupCp.Ala333ArgfsTer66[5]
PFE46942542c.1016G>Ap.Trp339Ter[10,18]
PFE46942559c.1036delCp.Leu346TrpfsTer9[10]
PFE46942901c.1050-3C>GN/A[7]
PFE46942936c.1082G>Ap.Trp361Ter[9]
PFE46942946c.1092delGp.Val365CysfsTer140[19]
PFE46944150c.1348_1350delTTCp.Phe450del[9]
PFE46944238c.1354-1G>AN/A[20]
PFE46944956c.1595delCp.Pro532LeufsTer85[8]
PFE46945129c.1765T>Cp.Trp589Arg[6]
PFE和Eiken骨骼发育不良46935424c.103G>Ap.Glu35Lys[21]
PFE/Blomstrand软骨发育不良46937356c.310C>Tp.Arg104Ter[10]
PFE/Blomstrand软骨发育不良46939426c.395C>Tp.Pro132Leu[16]
PFE/Blomstrand软骨发育不良46942945c.1093delGp.365CysfsTer141[10,18]
PFE/Blomstrand软骨发育不良46943287c.1148G>Ap.Arg383Gln[10]
PFE（伴轻微骨骼异常）46939935c.611T>AP.Val204Glu[22]

Fig 1

Effect of PTH1R signal deficiency on tooth eruption disorder in mice"

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