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.

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