Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Insulin promoter factor 1

The gene encodes a transcription activator for several genes involved in development and function of the endocrine pancreas. Mutations cause autosomal dominant diabetes MODY4. Pancreatic agenesis 1 with exocrine and endocrine pancreatic secretion and permanent neonatal diabetes mellitus is an autosomal recessive disorder.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

MODY4 diabetes
PDX1
Pancreatic agenesis 1
PDX1
Hereditary susceptibility to diabetes
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1

References:

1.

Wright NM et al. (1993) Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis.

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2.

Stoffers DA et al. (1997) Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.

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3.

Schwitzgebel VM et al. (2003) Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.

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4.

Macfarlane WM et al. (1999) Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.

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5.

Hani EH et al. (1999) Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus.

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6.

Cockburn BN et al. (2004) Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family.

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7.

Stoffers DA et al. (1998) Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein.

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8.

Orphanet article

Orphanet ID 124173 [^]
9.

NCBI article

NCBI 3651 [^]
10.

OMIM.ORG article

Omim 600733 [^]
11.

Wikipedia article

Wikipedia EN (PDX1) [^]
Update: April 29, 2019