Int J Stomatol

Int J Stomatol ›› 2023, Vol. 50 ›› Issue (2): 224-229.doi: 10.7518/gjkq.2023039

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Research progress on the clinical characteristics of Axenfeld-Rieger syndrome and the pathogenic mechanisms of paired-like homeodomain transcription factor 2 mutations

Wang Jingyan(),Qin Man,Wang Xin.()   

  1. Dept. of Pediatric Dentistry, School and Hospital of Stomatology, Peking University, Beijing 100081, China
  • Received:2022-07-13 Revised:2022-10-10 Online:2023-03-01 Published:2023-03-14
  • Contact: Xin. Wang E-mail:jenkins_1211@163.com;pkusswangxin@bjmu.edu.cn

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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

CLC Number: 

  • R 782

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