Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).
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.
Beckers
Dominique
D
Department of Pediatrics, Division of Pediatric Endocrinology, Catholic University of Louvain, Yvoir, Belgium. dominique.beckers@pedi.ucl.ac.be
Bellanné-Chantelot
Christine
C
Maes
Marc
M
D001663:Bilirubin / Q000378:metabolism; D002779:Cholestasis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D035583:Rare Diseases; D018570:Risk Assessment; D013997:Time Factors
D051539:Hepatocyte Nuclear Factor 1-beta; D001663:Bilirubin