Detection of A Novel PAX6 Mutation In A Chinese Family With Multiple Ocular Abnormalities

Background: Aniridia is a congenital, panocular disease which could affect cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function mutations were the most common cause of aniridia. Mutations throughout the PAX6 gene have been linked to a range of ophthalmic abnormalities. Distinct mutations at a given site in PAX6 lead to distinctive phenotypic findings. This study aimed to characterize genetic mutations associated with congenital aniridia in a Chinese family. Methods: The proband and family underwent ophthalmologic examinations as well as exome sequencing. Results have been confirmed by Next Generation Sequencing. Results: A novel mutation(c.114_119delinsAATTTCC:p.Pro39llefsTer17)in the PAX6 gene was identified in subjectsⅡ-1, III-1 and III-2 in these family who exhibited complete aniridia and cataract. Proband and the proband’s brother also exhibited glaucoma, high myopia, and foveal hypoplasia. Conclusions: ： We identified a novel PAX6 frameshift heterozygous deletion mutation in a Chinese family and infered this mutation a probable cause of various eye abnormalities in carriers. Trial registration： We did not do any health-related interventions on the participants.