Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.

ABSTRACT:

Background & aims

Neonatal sclerosing cholangitis (NSC) is a severe neonatal-onset cholangiopathy commonly leading to liver transplantation (LT) for end-stage liver disease in childhood. Liver biopsy findings histopathologically resemble those in biliary atresia (BA); however, in NSC extrahepatic bile ducts are patent, whilst in BA their lumina are obliterated. NSC is commonly seen in consanguineous kindreds, suggesting autosomal recessive inheritance.

Methods

From 29 NSC patients (24 families) identified, DNA was available in 24 (21 families). Thirteen (7 male) patients (12 families) of consanguineous parentage were selected for whole exome sequencing. Sequence variants were filtered for homozygosity, pathogenicity, minor allele frequency, quality score, and encoded protein

SUBMITTER: Grammatikopoulos T 

PROVIDER: S-EPMC5116266 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature