Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).

ABSTRACT

This report describes the phenotype of a novel de novo heterozygous frameshift mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta or TCF2) manifest as a neonatal paucity of intrahepatic bile ducts. HNF-1beta mutations should be considered in neonates with cholestatic jaundice associated with renal malformation or diabetes mellitus.