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Autosomal recessive polycystic kidney disease (ARPKD) is a rare disease with an incidence of approximately 1 in 20,000 live births.1 The carrier frequency in discrete populations is estimated to be 1 in 70.2 Genetic confirmation in the proband could impact future pregnancies in the family and counseling. The PKHD1 gene on chromosome 6p21.1-p12 that codes for fibrocystin/polyductin (FPC) is implicated primarily.3 FPC is localized to primary cilia and their basal bodies. The location, concentration, and presence during early ciliogenesis seem to indicate its role in microtubule organization and mechano-chemosensation (i.e., key functions of primary cilia). This in turn is vital to the maintenance of the structural integrity of various organsnotably renal and hepatic.4 Several mutations, mostly missense, have been reported.5 Most patients who have severe clinical features are compound heterozygotes. We report a rare missense homozygous mutation on exon 22 that presented perinatally. To the best of our knowledge, there are only three previous reports of this variant, in compound heterozygous form. Adding to the scientific literature may assist appropriate future pathogenicity classification of this unique variant and aid genetic counseling.

Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease