A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis

Aleida G. M. de Vries*, Willie M. Bakker-van Waarde, Anne C. M. Dassel, Monique Losekoot, Evelien W. Duiker, Annette S. H. Gouw, Frank A. J. A. Bodewes

*Corresponding author for this work

Research output: Contribution to journalLetterAcademicpeer-review

1 Citation (Scopus)


We report a novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) mutation (heterozygote c.130dup, p.Leu44fs) presenting with transient neonatal cholestasis, subsequently followed by persistent elevation of transaminases, maturity-onset diabetes of the young (MODY) type 3 and hepatocellular adenomas. This case report demonstrates that clinical and histological symptoms of HNF1A mutations can present as early as infancy. We recommend screening for HNF1A mutations in patients presenting with otherwise unexplained, non-obstructive, neonatal cholestasis. Based on the location and type of the HNF1A mutations, patients should be screened for development of diabetes and pre-symptomatic hepatocellular adenomas.

Original languageEnglish
Pages (from-to)1295-1297
Number of pages3
JournalJournal of Hepatology
Issue number5
Publication statusPublished - Nov-2015


  • HNF-1-BETA

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