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

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