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    Pediatr Diabetes. 2009 Nov;10(7):492-6. Epub 2009 Jun 3.

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

    Thomas IH, Saini NK, Adhikari A, Lee JM, Kasa-Vubu JZ, Vazquez DM, Menon RK, Chen M, Fajans SS.

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    Department of Pediatrics and Communicable Diseases, Division of Pediatric Endocrinology, University of Michigan Health Center, Ann Arbor, MI 48109, USA.

    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.

    PMID:
    19496967
    [PubMed - indexed for MEDLINE]

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