Journal
GENETICS AND MOLECULAR RESEARCH
Volume 14, Issue 2, Pages 3618-3624Publisher
FUNPEC-EDITORA
DOI: 10.4238/2015.April.17.11
Keywords
Autosomal recessive polycystic kidney disease; Ciliopathy; PKHD1; MKS1; Ventriculomegaly
Funding
- Northern Counties Kidney Research Fund
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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.We conclude that the homozygous pathogenic mutation in PKHD1 underlies the ciliopathy phenotype in this patient.
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