Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.

ABSTRACT:

Background

Caroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age of onset and clinical manifestations. When congenital hepatic fibrosis is associated with the polycystic dilatation of the biliary tract, the condition is referred as Caroli syndrome. The disease is thought to be caused by pathogenic variants in the PKHD1 gene (OMIM *606702).

Method

We report the clinical, biochemical, and molecular characterization of three patients with a clinical suspicion of CS belonging to two different families. The genetic screening was performed using a target custom panel and sequencing was performed on Illumina platform.

Results

Genetic analysis reve

SUBMITTER: Giacobbe C 

PROVIDER: S-EPMC9356553 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature