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- Title
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.
- Authors
Thomas, Inas H; Saini, Natinder K; Adhikari, Amita; Lee, Joyce M; Kasa-vubu, Josephine Z; Vazquez, Delia M; Menon, Ram K; Chen, Ming; Fajans, Stefan S
- Abstract
Permanent neonatal diabetes mellitus is a rare disorder known to be caused by activating mutations in KCNJ11 or ABCC8, inactivating mutations in INS, or very rarely in GCK or insulin promotor factor-1 (IPF-1) genes. We report a patient with permanent neonatal diabetes mellitus and severe exocrine pancreatic insufficiency. Ultrasound examination revealed pancreatic agenesis with a suggestion of a small amount of tissue in the head of the pancreas. Genetic testing revealed that the neonate had a homozygous Pro63fsX60 IPF-1 mutation. This is the second reported case of neonatal diabetes mellitus secondary to a homozygous mutation in the IPF-1 gene and supports the previously proposed biological role of IPF-1 in the pancreatic development in human.
- Subjects
CASE studies; DIABETES in children; PANCREATIC diseases; GENETIC mutation; RARE diseases; CONTRAST media; HUMAN chromosome abnormality diagnosis; GENETICS
- Publication
Pediatric Diabetes, 2009, Vol 10, Issue 7, p492
- ISSN
1399-543X
- Publication type
Article
- DOI
10.1111/j.1399-5448.2009.00526.x