Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly
“Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly”, vol. 14. pp. 3618-3624, 2015.
, Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy leading to progressive kidney and liver disease. Biallelic mutations in the PKHD1 gene underlie this condition. We describe a child with bilaterally enlarged cystic kidneys, portal hypertension, and cerebral ventriculomegaly. Molecular genetic investigations using whole-exome sequencing and confirmation using Sanger sequencing revealed a homozygous pathogenic mutation in PKHD1 underlying the clinical phenotype of ARPKD.