%0 Journal Article %T Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease %J International Journal of Pediatrics %I Mashhad University of Medical Sciences %Z 2345-5047 %A Mirzajani, Sara %A Mohebi, Mehdi %A Miryounesi, Mohammad %A Yassaee, Vahid Reza %A Ghafouri-Fard, Soudeh %D 2018 %\ 02/01/2018 %V 6 %N 2 %P 7033-7037 %! Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease %K ARPKD %K Gene %K Mutation %R 10.22038/ijp.2017.27282.2352 %X BackgroundAutosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease.Case ReportIn 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).ConclusionUnlike 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. %U https://ijp.mums.ac.ir/article_9615_0d87b49e106519e19afdf8eff49ec100.pdf