Identification of Two Novel Mutations in Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing.

Background: Polycystic kidney disease (PKD) is an autosomal recessive disorder resulting from mutations in the gene on chromosome 6 (6p12), a large gene spanning 470 kb of genomic DNA.

Objective: The aim of the present study was to report newly identified mutations in the gene in two Iranian families with PKD.

Materials And Methods: Genetic alterations of a 3-month-old boy and a 27-year-old girl with PKD were evaluated using whole-exome sequencing.