Sara Mirzajani; Mehdi Mohebi; Mohammad Miryounesi; Vahid Reza Yassaee; Soudeh Ghafouri-Fard
Abstract
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 ...
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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.
