国际口腔医学杂志 ›› 2023, Vol. 50 ›› Issue (2): 224-229.doi: 10.7518/gjkq.2023039
Wang Jingyan(),Qin Man,Wang Xin.(
)
摘要:
Axenfeld-Rieger综合征(ARS)是一类罕见的常染色体显性遗传病,通常具有眼部和口腔颌面部发育缺陷。成对同源结构域转录因子2(PITX2)是目前已明确的ARS候选致病基因之一,在调控颅面和牙齿发育中扮演重要角色。目前已知的伴有PITX2突变的ARS患者,绝大多数均存在不同程度的口腔和或颌面部发育缺陷。常见的牙齿发育异常为恒牙先天缺失、畸形牙、釉质发育不全等,面部发育异常通常发生在面中部,包括上颌后缩、鼻梁宽平等。本文将对ARS患者的口腔相关临床特点,及相关PITX2突变的致病机制进行综述,为此类患者的临床和分子诊断,以及综合治疗提供更多线索和信息。
中图分类号:
1 | Seifi M, Walter MA. Axenfeld-Rieger syndrome[J]. Clin Genet, 2018, 93(6): 1123-1130. |
2 | Souzeau E, Siggs OM, Pasutto F, et al. Gene-speci-fic facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants[J]. Am J Med Genet A, 2021, 185(2): 434-439. |
3 | Chrystal PW, Walter MA. Aniridia and Axenfeld-Rieger syndrome: clinical presentations, molecular genetics and current/emerging therapies[J]. Exp Eye Res, 2019, 189: 107815. |
4 | Wang X, Liu X, Huang LQ, et al. Mutation survey of candidate genes and genotype-phenotype analysis in 20 southeastern Chinese patients with Axenfeld-Rieger syndrome[J]. Curr Eye Res, 2018, 43(11): 1334-1341. |
5 | Fournier BP, Bruneau MH, Toupenay S, et al. Patterns of dental agenesis highlight the nature of the causative mutated genes[J]. J Dent Res, 2018, 97(12): 1306-1316. |
6 | Perre PV, Seco CZ, Patat O, et al. 4q25 microdeletion encompassing PITX2: a patient presenting with tetralogy of Fallot and dental anomalies without o-cular features[J]. Eur J Med Genet, 2018, 61(2): 72-78. |
7 | Agarwal P, Jain K, Sandesh S, et al. Axenfeld-Rieger syndrome: rare case presentation and overview[J]. J Maxillofac Oral Surg, 2020, 19(3): 364-369. |
8 | Madissoon E, Jouhilahti EM, Vesterlund L, et al. Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos[J]. Sci Rep, 2016, 6: 28995. |
9 | Hendee KE, Sorokina EA, Muheisen SS, et al. PITX2 deficiency and associated human disease: insights from the zebrafish model[J]. Hum Mol Genet, 2018, 27(10): 1675-1695. |
10 | Tran TQ, Kioussi C. Pitx genes in development and disease[J]. Cell Mol Life Sci, 2021, 78(11): 4921-4938. |
11 | French CR. Mechanistic insights into Axenfeld-Rie-ger syndrome from zebrafish foxc1 and pitx2 mutants[J]. Int J Mol Sci, 2021, 22(18): 10001. |
12 | Schubert FR, Singh AJ, Afoyalan O, et al. To roll the eyes and snap a bite-function, development and evolution of craniofacial muscles[J]. Semin Cell Dev Biol, 2019, 91: 31-44. |
13 | St Amand TR, Zhang Y, Semina EV, et al. Antagonistic signals between BMP4 and FGF8 define the expression of Pitx1 and Pitx2 in mouse tooth-for-ming anlage[J]. Dev Biol, 2000, 217(2): 323-332. |
14 | Liu W, Selever J, Lu MF, et al. Genetic dissection of Pitx2 in craniofacial development uncovers new functions in branchial arch morphogenesis, late aspects of tooth morphogenesis and cell migration[J]. Development, 2003, 130(25): 6375-6385. |
15 | Jumlongras D, Lachke SA, O’Connell DJ, et al. An evolutionarily conserved enhancer regulates Bmp4 expression in developing incisor and limb bud[J]. PLoS One, 2012, 7(6): e38568. |
16 | Balic A, Thesleff I. Tissue interactions regulating tooth development and renewal[J]. Curr Top Dev Biol, 2015, 115: 157-186. |
17 | Chen Y, Wang Z, Lin C, et al. Activated epithelial FGF8 signaling induces fused supernumerary incisors[J]. J Dent Res, 2022, 101(4): 458-464. |
18 | Liu W, Selever J, Murali D, et al. Threshold-specific requirements for Bmp4 in mandibular development[J]. Dev Biol, 2005, 283(2): 282-293. |
19 | Yu WJ, Sun Z, Sweat Y, et al. Pitx2-Sox2-Lef1 interactions specify progenitor oral/dental epithelial cell signaling centers[J]. Development, 2020, 147(11): dev186023. |
20 | Sweat YY, Sweat M, Yu W, et al. Sox2 controls periderm and rugae development to inhibit oral adhesions[J]. J Dent Res, 2020, 99(12): 1397-1405. |
21 | Hassed SJ, Li SB, Xu WH, et al. A novel mutation in PITX2 in a patient with axenfeld-rieger syndrome[J]. Mol Syndromol, 2017, 8(2): 107-109. |
22 | Intarak N, Theerapanon T, Ittiwut C, et al. A novel PITX2 mutation in non-syndromic orodental anomalies[J]. Oral Dis, 2018, 24(4): 611-618. |
23 | Li X, Venugopalan SR, Cao HJ, et al. A model for the molecular underpinnings of tooth defects in A-xenfeld-Rieger syndrome[J]. Hum Mol Genet, 2014, 23(1): 194-208. |
24 | Vadlamudi U, Espinoza HM, Ganga M, et al. PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter[J]. J Cell Sci, 2005, 118(Pt 6): 1129-1137. |
25 | Qiu M, Bulfone A, Martinez S, et al. Null mutation of Dlx-2 results in abnormal morphogenesis of pro-ximal first and second branchial arch derivatives and abnormal differentiation in the forebrain[J]. Genes Dev, 1995, 9(20): 2523-2538. |
26 | Espinoza HM, Cox CJ, Semina EV, et al. A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome[J]. Hum Mol Genet, 2002, 11(7): 743-753. |
27 | Fan ZZ, Sun SC, Liu HC, et al. Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis[J]. Oral Dis, 2019, 25(8): 2010-2019. |
28 | Seifi M, Walter MA. Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms[J]. PLoS One, 2018, 13(4): e0195971. |
29 | Amendt BA, Sutherland LB, Semina EV, et al. The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities[J]. J Biol Chem, 1998, 273(32): 20066-20072. |
30 | Quentien MH, Vieira V, Menasche M, et al. Truncation of PITX2 differentially affects its activity on physiological targets[J]. J Mol Endocrinol, 2011, 46(1): 9-19. |
31 | Zhang F, Zhang LS, He L, et al. A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein[J]. Int Ophthalmol, 2021, 41(4): 1503-1511. |
32 | Priston M, Kozlowski K, Gill D, et al. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome[J]. Hum Mol Genet, 2001, 10(16): 1631-1638. |
33 | 秦满. 儿童口腔科临床病例解析[M]. 北京: 人民卫生出版社, 2021. |
Qin M. Clinical cases in pediatric dentistry[M]. Beijing: People’s Medicul Publishing House, 2021. | |
34 | Bender CA, Koudstaal MJ, van Elswijk JF, et al. Two cases of axenfeld-rieger syndrome, report of the complex pathology and treatment[J]. Cleft Pa-late Craniofac J, 2014, 51(3): 354-360. |
35 | Siddiqui HP, Sennimalai K, Samrit VD, et al. Adjunctive orthodontic therapy for prosthetic rehabilitation in a growing child with Axenfeld-Rieger syndrome: a case report[J]. Spec Care Dentist, 2021, 41(3): 423-430. |
36 | Dressler S, Meyer-Marcotty P, Weisschuh N, et al. Dental and craniofacial anomalies associated with axenfeld-rieger syndrome with PITX2 mutation[J]. Case Rep Med, 2010, 2010: 621984. |
37 | Pirih FQ, Casarin M, Perussolo J, et al. Rieger syndrome: rehabilitation with dental implants[J]. Clin Adv Periodontics, 2019, 9(4): 172-176. |
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