Scientific background:

Summary: 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 hypoplasia with exocrine and endocrine pancreatic secretion and permanent neonatal diabetes mellitus is an autosomal recessive disorder.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Stoffers DA et al. (1997) Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.
Wright NM et al. (1993) Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis.
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.
Macfarlane WM et al. (1999) Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.
Hani EH et al. (1999) Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus.
Macfarlane WM et al. (1999) Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.
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.
Schwitzgebel VM et al. (2003) Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.