ABSTRACT. 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. Whole-exome data analysis was used to search for additional rare variants in additional ciliopathy genes that may have contributed to the unusual brain phenotype. Aside from a rare hypomorphic allele in MKS1, no other pathogenic variants were detected. 3619Polycystic kidney disease and ventriculomegaly ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (2): 3618-3624 (2015) We conclude that the homozygous pathogenic mutation in PKHD1 underlies the ciliopathy phenotype in this patient.
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