Clinical features and genetic variations of Axenfeld-Rieger syndrome
10.3760/cma.j.cn115989-20200301-00127
- VernacularTitle:Axenfeld-Rieger综合征临床特征及遗传变异相关研究
- Author:
Qi WANG
1
;
Zhengbo SHAO
;
Huiping YUAN
Author Information
1. 哈尔滨医科大学附属第二医院眼科 哈尔滨医科大学心肌缺血教育部重点实验室，哈尔滨 150086
- Keywords:
Axenfeld-Rieger syndrome;
Clinical features;
Genes;
Genetic variation
- From:
Chinese Journal of Experimental Ophthalmology
2023;41(9):920-924
- CountryChina
- Language:Chinese
-
Abstract:
Axenfeld-Rieger syndrome is a rare autosomal dominant hereditary disease characterized by anterior segment dysgenesis, which may be accompanied by various systemic defects, including craniofacial dysmorphism, hypodontia, microdontia, and redundant periumbilical skin.Its typical ocular manifestations include posterior embryotoxon, iris hypoplasia, peripheral anterior synechiae, corectopia and polycoria with a high prevalence of glaucoma.Patients can exhibit any combination of these features.However, family members with the same genotype may present different phenotypes due to phenotypic heterogeneity.Emerging evidence suggests that PITX2 and FOXC1 genes encoding transcription factors are primarily associated with genetic variants in ARS.Intragenic mutations and gene deletions are common types of genetic variations suspected to trigger changes in gene dosages and protein function.However, the underlying molecular mechanism remains unclear.Some patients with ARS carry mutations in the COL4A1, PRDM5, and CYP1B1 genes, but the pathogenicity of these variations has yet to be confirmed by further studies.This article provided an overview of the typical clinical features, potential correlations between phenotype and genotype, as well as gene function.
