Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease

Background autosomal recessive polycystic kidney disease (arpkd; omim number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. case report in the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (pkd), hepatic failure and epileptic seizures who died at the age of 8 months. both parents were heterozygote for a missense mutation in pkhd1 gene (nm_170724, c.9107t>g, p.v3036g). conclusion unlike previous studies which showed the association between missense mutations of pkhd1 gene and mild phenotype of arpkd, we have demonstrated the presence of a certain heterozygote missense mutation in parents of a patient affected with lethal form of disorder. such phenotypic variations should be considered in genetic counseling of families especially those seeking prenatal diagnosis.