Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report

Abstract Background Leber congenital amaurosis (LCA), the severe form of inherited retinal degenerative disorder, is a prevalent disorder in first year life. Recently, genetic studies discovered that different gene mutations are responsible for LCA clinical manifestations. Case presentation In this study, we applied whole exome sequencing (WES) to identify probable defects an Iranian girl with LCA-1. We found novel disease-causing GUCY2D mutation (c.2348T > C; p.L783P), located exon 12 (NM_000180), causing missense has been changed coding protein. The WES-identified variant was confirmed by Sanger patient and her healthy parents. Submitted counseling 1-year old blindness from birth. Conclusions Our findings establish detected -p.L783P pathogenic This study indicating c.2348T C homozygous state LCA-1 phenotype.