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

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

doi:10.22038/ijp.2017.27282.2352

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

Document Type : case report

Authors

Sara Mirzajani ¹

Mehdi Mohebi ²

Mohammad Miryounesi ²

Vahid Reza Yassaee ²

Soudeh Ghafouri-Fard ¹

¹ Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

² Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

10.22038/ijp.2017.27282.2352

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.

Keywords

ARPKD

Gene

Mutation