甲状旁腺激素受体1基因相关与原发性牙齿萌出障碍的研究进展

doi:10.7518/gjkq.2023080

摘要/Abstract

摘要：

原发性牙齿萌出障碍（PFE）是一种罕见的常染色体显性遗传性疾病，主要表现为单侧或双侧后牙区开𬌗，无明显局部阻碍因素和全身因素，主要与患者牙齿萌出机制异常有关。目前研究认为其病因与甲状旁腺激素受体1（PTH1R）基因突变有密切联系，但其背后的致病机制还有待阐明。本文就与PFE发病相关的热点基因PTH1R信号缺陷与破骨细胞功能、牙囊发育、牙槽骨形成、牙周膜形成、牙根形成的研究现状进行综述，意为PFE的病因遗传学及分子机制的研究提供参考。

关键词: 原发性牙齿萌出障碍, 甲状旁腺激素受体1, 破骨细胞, 牙囊, 牙槽骨, 牙周膜

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

中图分类号:

Q 754

余岳霖,孔卫东. 甲状旁腺激素受体1基因相关与原发性牙齿萌出障碍的研究进展[J]. 国际口腔医学杂志, 2023, 50(5): 573-580.

Yu Yuelin,Kong Weidong. Research progress on the association between primary failure of tooth eruption and parathyroid hormone receptor 1 gene[J]. Int J Stomatol, 2023, 50(5): 573-580.

图/表 2

表 1

图 1

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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
PFE	46937391	c.313+32A>G	N/A	[8]
PFE	46939352	c.322delT	p.Cys108ValfsTer82	[10]
PFE	46939362	c.331G>T	p.Glu111Ter	[10]
PFE	46939387	c.356C>T	p.Pro119Leu	[16]
PFE	46939564	c.425G>T	p.Gly142Val	[17]
PFE	46939575	c.436C>T	p. Arg146Ter	[18]
PFE	46939578	c.439C>T	p.Arg147Cys	[9]
PFE	46939602	c.463G>T	p.Glu155Ter	[7]
PFE	46939644	c.505G>T	p.Glu169Ter	[15]
PFE	46939683	c.543+1G>A	N/A	[7]
PFE	46939683	c.543+1G>T	N/A	[10]
PFE	46939842	c.544-25_544-23delCTG	N/A	[9]
PFE	46939895	c.572delA	p.Tyr191SerfsTer14	[5]
PFE	46939957	c.636dupT	p.Arg213Ter	[10,18]
PFE	46940150	c.639-2A>C	N/A	[10]
PFE	46940150	c.639-2A>G	N/A	[10]
PFE	46940325	c.813dupT	p.Ala272cysfsTer127	[18]
PFE	46940850	c.892T>G	p.Trp298Gly	[9]
PFE	46940905	c.947C>A	p.Ser316Ter	[9]
PFE	46942515	c.989G>T	p.Gly330Val	[9]
PFE	46942519	c.996dupC	p.Ala333ArgfsTer66	[5]
PFE	46942542	c.1016G>A	p.Trp339Ter	[10,18]
PFE	46942559	c.1036delC	p.Leu346TrpfsTer9	[10]
PFE	46942901	c.1050-3C>G	N/A	[7]
PFE	46942936	c.1082G>A	p.Trp361Ter	[9]
PFE	46942946	c.1092delG	p.Val365CysfsTer140	[19]
PFE	46944150	c.1348_1350delTTC	p.Phe450del	[9]
PFE	46944238	c.1354-1G>A	N/A	[20]
PFE	46944956	c.1595delC	p.Pro532LeufsTer85	[8]
PFE	46945129	c.1765T>C	p.Trp589Arg	[6]
PFE和Eiken骨骼发育不良	46935424	c.103G>A	p.Glu35Lys	[21]
PFE/Blomstrand软骨发育不良	46937356	c.310C>T	p.Arg104Ter	[10]
PFE/Blomstrand软骨发育不良	46939426	c.395C>T	p.Pro132Leu	[16]
PFE/Blomstrand软骨发育不良	46942945	c.1093delG	p.365CysfsTer141	[10,18]
PFE/Blomstrand软骨发育不良	46943287	c.1148G>A	p.Arg383Gln	[10]
PFE（伴轻微骨骼异常）	46939935	c.611T>A	P.Val204Glu	[22]

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