Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families  

作　　者：Xiao-lu HAO Ran CHEN Wei LIU Bao-ke HOU Ling-hui QU Zhao-hui LI Da-jiang WANG Xin JIN Hou-bin HUANG 

机构地区：[1]Senior Department of Opthalmology,the Third Medical Center of Chinese PLA General Hospital,Beijing,100039,China [2]Bolin Eye Care Group,Beijing,100098,China [3]Department of Ophthalmology,Hainan Hospital of Chinese PLA General Hospital,Sanya,572000,China [4]Department of Ophthalmology,the 74th Army Group Hospital,Guangzhou,510318,China

出　　处：《Current Medical Science》2024年第4期820-826,共7页当代医学科学（英文）

摘　　要：Objective To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.Methods A comprehensive questionnaire and ophthalmological assessments were administered to both affected patients and unaffected relatives.The clinical feature analysis included the evaluation of visual acuity,intraocular pressure,slit-lamp anterior segment examination,fundus photography,and spectral domain optical coherence tomography.To identify the mutation responsible for aniridia,targeted next-generation sequencing was used as a beneficial technique.Results A total of 4 mutations were identified,consisting of two novel frameshift mutations(c.314delA,p.K105Sfs*33 and c.838_845dup AACACACC,p.S283Tfs*85),along with two recurring nonsense mutations(c.307C>T,p.R103X and c.619A>T,p.K207*).Complete iris absence,macular foveal hypoplasia,and nystagmus were consistent in these PAX6 haplotype-deficient Chinese aniridia families,while corneal lesions,cataracts,and glaucoma exhibited heterogeneity both among the families and within the same family.Conclusion In our study,two novel PAX6 mutations associated with aniridia were identified in Chinese families,which expanded the phenotypic and genotypic spectrum of PAX6 mutations.We also analyzed the clinical characteristics of PAX6 haplotype deficiency in Chinese aniridia families.

关 键 词：ANIRIDIA PAX6 mutation haplotype deficiency PHENOTYPE genotype 

分 类 号：R77[医药卫生—眼科]