Journal
JOURNAL OF HEPATOLOGY
Volume 59, Issue 4, Pages 904-907Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jhep.2013.05.024
Keywords
HNF1A; MODY3; Diabetes; Hepatocellular adenoma; Hepatocellular carcinoma
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Maturity onset diabetes of the young type 3 (MODY3) and hepatocellular adenomas (HCAs) are associated with mutations in the HNF1A gene. HNF1A codes for the transcription factor HNF1 alpha, which interacts with DNA as a homodimer or a heterodimer with HNF1 beta, to regulate multiple cellular functions including glucidic metabolism, lipidic transport, and detoxication. We report three members of one family with a novel germline in-frame deletion of HNF1A exons 2-3 identified initially using array CGH and direct sequence analysis. All three family members have MODY3 in association with primary liver cell tumours (HCA, liver adenomatosis (LA), and hepatocellular carcinoma (HCC)). Additionally, a high rate of infant mortality was observed in the family. The described family demonstrates a novel HNF1A mutation associated with both benign and malignant primary liver cell tumours and MODY3. (C) 2013 European Association for the Study of the Liver. Published by Elsevier B. V. All rights reserved.
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