Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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 |
| 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
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| 9. |
NCBI article NCBI 3651
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| 10. |
OMIM.ORG article Omim 600733
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| 11. |
Wikipedia article Wikipedia EN (PDX1)
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