Title: HNF1B deficiency causes ciliary defects in human cholangiocytes
Authors: Roelandt, Philip ×
Antoniou, Aline
Libbrecht, Louis
Van Steenbergen, Werner
Laleman, Wim
Verslype, Chris
Van der Merwe, Schalk
Nevens, Frederik
De Vos, Rita
Fischer, Evelyne
Pontoglio, Marco
Lemaigre, Frédéric
Cassiman, David #
Issue Date: Sep-2012
Publisher: W.B. Saunders
Series Title: Hepatology vol:56 issue:3 pages:1178-81
Article number: 10.1002/hep.25876
Abstract: Heterozygous deletion or mutation in hepatocyte nuclear factor 1 homeobox B/transcription factor 2 (HNF1B/TCF2) causes renal cyst and diabetes syndrome (OMIM #137920). Mice with homozygous liver-specific deletion of Hnf1β revealed that a complete lack of this factor leads to ductopenia and bile duct dysplasia, in addition to mild hepatocyte defects. However, little is known about the hepatic consequences of deficient HNF1B function in humans. Three patients with heterozygous HNF1B deficiency were found to have normal bile duct formation on radiology and routine liver pathology. Electron microscopy revealed a paucity or absence of normal primary cilia. Therefore, heterozygous HNF1B deficiency is associated with ciliary anomalies in cholangiocytes, and this may cause cholestasis. (HEPATOLOGY 2012).
ISSN: 0270-9139
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Hepatology
× corresponding author
# (joint) last author

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