New Frameshift in Pax6 And Missense Mutation in Eya1 Gene Found by Whole Exome Sequencing Associated with Severe Eye Impairments in an Iranian Family

Abstract

Introduction: Previous studies have examined the impacts of PAX6 mutations on a wide range of eye impairments. Because of the PAX6 protein’s binding functions, alterations in its structure may prevent it from correctly connecting with the DNA molecule. 1.2. Materials and Methods: Whole Exome Sequencing [WES] was used to perform in vitro analysis on a 30-year-old woman who sent to a genetic laboratory for PND. Her spouse had clear serious vision problems. To determine the genotypes, both her spouse and her husband’s sister underwent mutation confirmation tests. In silico predictions were also conducted using SWISS-MODEL, ProSA, Molprobity, and SuperPose.