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Primary hepatocellular neoplasms in a MODY3 family with a novel HNF1A germline mutation.

Abstract：

: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 HNF1α, which interacts with DNA as a homodimer or a heterodimer with HNF1β, 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.

journal_name

J Hepatol

journal_title

Journal of hepatology

authors

Willson JS,Godwin TD,Wiggins GA,Guilford PJ,McCall JL

doi

10.1016/j.jhep.2013.05.024

subject

Has Abstract

pub_date

2013-10-01 00:00:00

pages

904-7

issue

4

eissn

0168-8278

issn

1600-0641

pii

S0168-8278(13)00355-3

journal_volume

59

pub_type

杂志文章

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