A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease

To the Editor, ∗ Corresponding author: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Email: darvish_mg@sbmu.ac.ir eporting novel mutations in genes related to human disorders along with their clinical complications can help prenatal diagnosis of the diseases through molecular genetic tests and also make it possible to predict the prognosis of the disease to some extends and consequently, the improved disease management. Herein we report a novel mutation in PKD1 gene, which results in autosomal dominant polycystic kidney disease (APKD), one of the commonest severe renal disorders (1). The pathogenic de novo mutations of this gene have been reported to be about 10% of APKD cases (2).