Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation

Inas H. Thomas, Natinder K. Saini, Amita Adhikari, Joyce M. Lee, Josephine Z. Kasa-vubu, Delia M. Vazquez, Ram K. Menon, Ming Chen, Stefan S. Fajans

Research output: Contribution to journalArticlepeer-review

49 Scopus citations

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.

Original languageEnglish
Pages (from-to)492-496
Number of pages5
JournalPediatric Diabetes
Volume10
Issue number7
DOIs
StatePublished - Nov 2009

Keywords

  • IPF-1
  • Neonatal diabetes
  • Pancreatic agenesis

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