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Hum Genome Var. 2016 Jul 14;3:16022. doi: 10.1038/hgv.2016.22. eCollection 2016.

Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5.

Author information

1
Diabetes Center, Tokyo Women's Medical University, Tokyo, Japan; Tokyo Women's Medical University Institute of Medical Genetics, Tokyo, Japan; Tokyo Women's Medical University Institute of Integrated Medical Science, Tokyo, Japan.
2
Department of Cardiovascular Medicine, Nippon Medical School , Tokyo, Japan.
3
Division of Clinical Genetics, Nippon Medical School , Tokyo, Japan.
4
Diabetes Center, Tokyo Women's Medical University , Tokyo, Japan.
5
Tokyo Women's Medical University Institute of Medical Genetics, Tokyo, Japan; Tokyo Women's Medical University Institute of Integrated Medical Science, Tokyo, Japan.

Abstract

The hepatocyte nuclear factor 1β gene (HNF1B) is responsible for maturity-onset diabetes of the young type 5 (MODY5), which is characterized by early-onset diabetes mellitus and urogenital malformations. HNF1B is expressed during visceral endoderm formation. We identified a disruption of the great pancreatic artery in a patient with MODY5 with no pancreatic body or tail. Our finding supports the significance of HNF1B in the development of the pancreas.

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