国际口腔医学杂志 ›› 2023, Vol. 50 ›› Issue (5): 573-580.doi: 10.7518/gjkq.2023080
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。
中图分类号:
1 | Hanisch M, Hanisch L, Kleinheinz J, et al. Primary failure of eruption (PFE): a systematic review[J]. Head Face Med, 2018, 14(1): 5. |
2 | Proffit WR, Vig KW. Primary failure of eruption: a possible cause of posterior open-bite[J]. Am J Orthod, 1981, 80(2): 173-190. |
3 | Yu Y, Cui C, Guan SY, et al. Function of orofacial stem cells in tooth eruption: an evolving perspective[J]. Chin J Dent Res, 2021, 24(3): 143-152. |
4 | Awad MG, Dalbah L, Srirengalakshmi M, et al. Review and case report of the treatment in a young girl with primary failure of eruption[J]. Clin Case Rep, 2022, 10(3): e05632. |
5 | Frazier-Bowers SA, Hendricks HM, Wright JT, et al. Novel mutations in PTH1R associated with primary failure of eruption and osteoarthritis[J]. J Dent Res, 2014, 93(2): 134-139. |
6 | Grippaudo C, Cafiero C, D’Apolito I, et al. Primary failure of eruption: clinical and genetic findings in the mixed dentition[J]. Angle Orthod, 2018, 88(3): 275-282. |
7 | Decker E, Stellzig-Eisenhauer A, Fiebig BS, et al. PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption[J]. Am J Hum Genet, 2008, 83(6): 781-786. |
8 | Grippaudo C, D’Apolito I, Cafiero C, et al. Valida-ting clinical characteristic of primary failure of eruption (PFE) associated with PTH1R variants[J]. Prog Orthod, 2021, 22(1): 43. |
9 | Risom L, Christoffersen L, Daugaard-Jensen J, et al. Identification of six novel PTH1R mutations in fa-milies with a history of primary failure of tooth eruption[J]. PLoS One, 2013, 8(9): e74601. |
10 | Roth H, Fritsche LG, Meier C, et al. Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption[J]. Clin Oral Investig, 2014, 18(2): 377-384. |
11 | Yamaguchi T, Hosomichi K, Shirota T, et al. Primary failure of tooth eruption: etiology and management[J]. Jpn Dent Sci Rev, 2022, 58: 258-267. |
12 | Izumida E, Suzawa T, Miyamoto Y, et al. Functional analysis of PTH1R variants found in primary failure of eruption[J]. J Dent Res, 2020, 99(4): 429-436. |
13 | Nagata M, Ono N, Ono W. Mesenchymal progenitor regulation of tooth eruption: a view from PTHrP[J]. J Dent Res, 2020, 99(2): 133-142. |
14 | Kanno CM, de Oliveira JA, Garcia JF, et al. Twenty-year follow-up of a familial case of PTH1R-asso-ciated primary failure of tooth eruption[J]. Am J Orthod Dentofacial Orthop, 2017, 151(3): 598-606. |
15 | Grippaudo C, Cafiero C, D’Apolito I, et al. A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report[J]. BMC Oral Health, 2019, 19(1): 249. |
16 | Yamaguchi T, Hosomichi K, Narita A, et al. Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese[J]. J Bone Miner Res, 2011, 26(7): 1655-1661. |
17 | Aziz S, Hermann NV, Dunø M, et al. Primary fai-lure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene[J]. Eur Arch Paediatr Dent, 2019, 20(3): 295-300. |
18 | Pilz P, Meyer-Marcotty P, Eigenthaler M, et al. Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene[J]. Fortschritte Der Kie-ferorthopadie, 2014, 75(3): 226-239. |
19 | Rhoads SG, Hendricks HM, Frazier-Bowers SA. Establishing the diagnostic criteria for eruption disorders based on genetic and clinical data[J]. Am J Orthod Dentofacial Orthop, 2013, 144(2): 194-202. |
20 | Frazier-Bowers SA, Simmons D, Wright JT, et al. Primary failure of eruption and PTH1R: the importance of a genetic diagnosis for orthodontic treatment planning[J]. Am J Orthod Dentofacial Orthop, 2010, 137(2): 160.e1-160.e7, 161. |
21 | Moirangthem A, Narayanan DL, Jacob P, et al. Report of second case and clinical and molecular cha-racterization of Eiken syndrome[J]. Clin Genet, 2018, 94(5): 457-460. |
22 | Jelani M, Kang C, Mohamoud HS, et al. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family[J]. Arch Oral Biol, 2016, 67: 28-33. |
23 | Zhao LH, Ma SS, Sutkeviciute I, et al. Structure and dynamics of the active human parathyroid hormone receptor-1[J]. Science, 2019, 364(6436): 148-153. |
24 | Fukushima H, Jimi E, Kajiya H, et al. Parathyroid-hormone-related protein induces expression of receptor activator of NF-kappa B ligand in human periodontal ligament cells via a cAMP/protein kinase A-independent pathway[J]. J Dent Res, 2005, 84(4): 329-334. |
25 | Lyu P, Li B, Li PR, et al. Parathyroid hormone 1 receptor signaling in dental mesenchymal stem cells: basic and clinical implications[J]. Front Cell Dev Biol, 2021, 9: 654715. |
26 | 赵迪芳, 关淑元, 樊怡, 等. 特发性甲状旁腺功能减退症对大鼠牙萌出的影响[J]. 中华口腔医学杂志, 2021, 56(9): 880-891. |
Zhao DF, Guan SY, Fan Y, et al. Effects of idiopa-thic hypoparathyroidism on tooth eruption of rats[J]. Chin J Stomatol, 2021, 56(9): 880-891. | |
27 | Subramanian H, Döring F, Kollert S, et al. PTH1R mutants found in patients with primary failure of tooth eruption disrupt G-protein signaling[J]. PLoS One, 2016, 11(11): e0167033. |
28 | Richman JM. Shedding new light on the mysteries of tooth eruption[J]. Proc Natl Acad Sci U S A, 2019, 116(2): 353-355. |
29 | Dempster DW, Hughes-Begos CE, Plavetic-Chee K, et al. Normal human osteoclasts formed from peripheral blood monocytes express PTH type 1 receptors and are stimulated by PTH in the absence of osteoblasts[J]. J Cell Biochem, 2005, 95(1): 139-148. |
30 | Langub MC, Monier-Faugere MC, Qi QL, et al. Parathyroid hormone/parathyroid hormone-related peptide type 1 receptor in human bone[J]. J Bone Miner Res, 2001, 16(3): 448-456. |
31 | Liu SX, Zhu WP, Li SJ, et al. Bovine parathyroid hormone enhances osteoclast bone resorption by modulating V-ATPase through PTH1R[J]. Int J Mol Med, 2016, 37(2): 284-292. |
32 | Martin TJ, Sims NA, Seeman E. Physiological and pharmacological roles of PTH and PTHrP in bone using their shared receptor, PTH1R[J]. Endocr Rev, 2021, 42(4): 383-406. |
33 | Ansari N, Ho PW, Crimeen-Irwin B, et al. Autocrine and paracrine regulation of the murine skeleton by osteocyte-derived parathyroid hormone-related protein[J]. J Bone Miner Res, 2018, 33(1): 137-153. |
34 | Udagawa N, Koide M, Nakamura M, et al. Osteoclast differentiation by RANKL and OPG signaling pathways[J]. J Bone Miner Metab, 2021, 39(1): 19-26. |
35 | Takahashi A, Nagata M, Gupta A, et al. Autocrine regulation of mesenchymal progenitor cell fates orchestrates tooth eruption[J]. Proc Natl Acad Sci U S A, 2019, 116(2): 575-580. |
36 | Cui C, Bi R, Liu W, et al. Role of PTH1R signaling in Prx1+ mesenchymal progenitors during eruption[J]. J Dent Res, 2020, 99(11): 1296-1305. |
37 | Ono W, Sakagami N, Nishimori S, et al. Parathyroid hormone receptor signalling in osterix-expressing mesenchymal progenitors is essential for tooth root formation[J]. Nat Commun, 2016, 7: 11277. |
38 | Fan Y, Hanai JI, Le PT, et al. Parathyroid hormone directs bone marrow mesenchymal cell fate[J]. Cell Metab, 2017, 25(3): 661-672. |
39 | Li JY, Parada C, Chai Y. Cellular and molecular mechanisms of tooth root development[J]. Development, 2017, 144(3): 374-384. |
40 | Tokavanich N, Gupta A, Nagata M, et al. A three-dimensional analysis of primary failure of eruption in humans and mice[J]. Oral Dis, 2020, 26(2): 391-400. |
41 | Wang J, Muir AM, Ren YS, et al. Essential roles of bone morphogenetic protein-1 and mammalian tolloid-like 1 in postnatal root dentin formation[J]. J Endod, 2017, 43(1): 109-115. |
42 | Zhou BO, Yue R, Murphy MM, et al. Leptin-receptor-expressing mesenchymal stromal cells represent the main source of bone formed by adult bone marrow[J]. Cell Stem Cell, 2014, 15(2): 154-168. |
43 | Zhang D, Zhang S, Wang J, et al. LepR-expressing stem cells are essential for alveolar bone regeneration[J]. J Dent Res, 2020, 99(11): 1279-1286. |
44 | Esposito A, Wang L, Li TS, et al. Role of Prx1-expressing skeletal cells and Prx1-expression in fracture repair[J]. Bone, 2020, 139: 115521. |
45 | Wang XP. Tooth eruption without roots[J]. J Dent Res, 2013, 92(3): 212-214. |
46 | Cheng ZJ, Wang XM, Ge J, et al. Disturbed enamel biomineralization in col1-caPPR mouse incisor[J]. Calcif Tissue Int, 2009, 84(6): 494-501. |
47 | 盛云飞. 原发性萌出障碍(PFE)的变异位点与临床表型的相关性研究[D]. 青岛: 青岛大学, 2019. |
Sheng YF. The study on the correlation of mutation sites and clinical phenotypes of primary failure of eruption (PFE)[D]. Qingdao: Qingdao University, 2019. | |
48 | Assiry AA, Albalawi AM, Zafar MS, et al. KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption[J]. Sci Rep, 2019, 9(1): 16469. |
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