Primary hepatocellular neoplasms in a MODY3 family with a novel HNF1A germline mutation.
J Hepatol
; 59(4): 904-7, 2013 Oct.
Article
in En
| MEDLINE
| ID: mdl-23707370
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 HNF1ß, 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Germ-Line Mutation
/
Adenoma, Liver Cell
/
Carcinoma, Hepatocellular
/
Diabetes Mellitus, Type 2
/
Hepatocyte Nuclear Factor 1-alpha
/
Liver Neoplasms
Type of study:
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
Language:
En
Journal:
J Hepatol
Journal subject:
GASTROENTEROLOGIA
Year:
2013
Type:
Article
Affiliation country:
New Zealand