A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family  

作　　者：Zhi-Bo Lin Chun-Yun Feng Jin Li An-Peng Pan Hai-Sen Sun A-Yong Yu Shi-Hao Chen 

机构地区：[1]National Clinical Research Center for Ocular Diseases,Eye Hospital,Wenzhou Medical University,Wenzhou 325027,Zhejiang Province,China [2]Department of Ophthalmology,the Quzhou Affiliated Hospital of Wenzhou Medical University,Quzhou People’s Hospital,Quzhou 324000,Zhejiang Province,China

出　　处：《International Journal of Ophthalmology(English edition)》2024年第3期466-472,共7页国际眼科杂志（英文版）

摘　　要：●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.

关 键 词：PAX6 gene atypical aniridia missense mutation MUTATION 

分 类 号：R774.1[医药卫生—眼科]