Our findings indicate exome sequencing can be useful in the diagnosis of Caroli disease patients and associate a compound heterozygous genotype in PKHD1 with Caroli disease, which further increases our understanding of the mutation spectrum of PKHD1 in association with Caroli disease.
Our findings indicate exome sequencing can be useful in the diagnosis of Caroli disease patients and associate a compound heterozygous genotype in PKHD1 with Caroli disease, which further increases our understanding of the mutation spectrum of PKHD1 in association with Caroli disease.
Genetic analysis of the gene, PKHD1, associated with autosomal recessive polycystic kidney disease (ARPKD) showed that the patient had compound heterozygous mutations, confirming that this early onset Caroli's disease was part of the spectrum of ARPKD.