Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease

Background autosomal recessive polycystic kidney disease (arpkd) is caused by mutations in the pkhd1 gene. in the present study, we describe a severe case of arpkd carrying a point mutation and a novel four-exon deletion of pkhd1 gene. materials and methods the pkhd1, pkd1 and pkd2 genes were analyzed using next-generation sequencing, whereas the pkhd1 gene exon deletions/duplications were screened using multiplex ligation-dependent probe amplification. results the c.2279g>a (p.arg760his) mutation and a deletion encompassing exons 24-27 of pkhd1 gene were detected in compound heterozygosity in the affected neonate. the complete documentation of the genetic basis of the disease offered the possibility of a targeted prenatal diagnosis in the following pregnancy of the couple. conclusion given that the molecular analysis of arpkd is mainly based on sequencing techniques, the pkhd1 gene exon deletion/duplication screening should be performed as a complementary assay in patients suspected to have arpkd in the absence of two pathogenic mutations.