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

doi:10.1111/j.1399-5448.2009.00526.x

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

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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 language	English
Pages (from-to)	492-496
Number of pages	5
Journal	Pediatric Diabetes
Volume	10
Issue number	7
DOIs	https://doi.org/10.1111/j.1399-5448.2009.00526.x
State	Published - Nov 2009

Keywords

IPF-1
Neonatal diabetes
Pancreatic agenesis

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10.1111/j.1399-5448.2009.00526.x

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title = "Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation",

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.",

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AU - Thomas, Inas H.

AU - Saini, Natinder K.

AU - Adhikari, Amita

AU - Lee, Joyce M.

AU - Kasa-vubu, Josephine Z.

AU - Vazquez, Delia M.

AU - Menon, Ram K.

AU - Chen, Ming

AU - Fajans, Stefan S.

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AB - 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.

KW - IPF-1

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

Abstract

Keywords

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