Axenfeld-Rieger综合征的口腔颌面部临床特点及相关成对同源结构域转录因子2基因突变的致病机制研究进展

doi:10.7518/gjkq.2023039

摘要/Abstract

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。

关键词: Axenfeld-Rieger综合征, 成对同源结构域转录因子2基因, 牙齿, 颌面部, 致病分子机制

Abstract:

Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disease, which usually presents eye and oral and maxillofacial developmental defects. Paired like home domain transcription factor 2 (PITX2) is one of the identified candidate pathogenic genes of ARS, and it plays an important role in regulating craniofacial and dental development. At present, most of the known ARS patients with PITX2 mutations have a wide variety of dental and (or) craniofacial abnormalities. Hypodontia, microdontia, hypoplasia of the enamel are the frequently detecteddental manifestations in patients with ARS. Facial abnormalities usually occur in the midface, including maxillary retraction and a broad flat nasal root and so on. This article aimed to review the oral related clinical characteristics of patients with ARS and the pathogenic mechanisms of PITX2 mutations, so as to provide more clues and information for the clinical and molecular diagnosis and comprehensive treatment of such patients.

Key words: Axenfeld-Rieger syndrome, paired-like homeodomain transcription factor 2 gene, tooth, maxillofacial region, pathogenic mechanism

中图分类号:

R 782

王婧妍,秦满,王欣. Axenfeld-Rieger综合征的口腔颌面部临床特点及相关成对同源结构域转录因子2基因突变的致病机制研究进展[J]. 国际口腔医学杂志, 2023, 50(2): 224-229.

Wang Jingyan,Qin Man,Wang Xin.. Research progress on the clinical characteristics of Axenfeld-Rieger syndrome and the pathogenic mechanisms of paired-like homeodomain transcription factor 2 mutations[J]. Int J Stomatol, 2023, 50(2): 224-229.

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