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

Authors

Mehdi Mohebi Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Mohammad Miryounesi Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Sara Mirzajani Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Soudeh Ghafouri-Fard Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Vahid Reza Yassaee Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Abstract:

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.

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