Scientific background:

Summary: The gene INSR encodes the insulin receptor, which is responsible for insulin's inreacellular metabolic actions. Depending on the nature of the mutation different diseases ensue. Insulin resitance is autosomal dominant, while Donohue syndrome and Rabson-Mendenhall syndrome are autosomal recessive.

Methodology:

	research test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		medium
		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.
	research test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		medium
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.

Literature: 

Okamoto H et al. (2003) In vivo mutagenesis of the insulin receptor.
Odawara M et al. (1989) Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.
Kahn CR et al. (1989) Molecular defects in insulin action.
Kahn CR et al. (1988) The insulin receptor and the molecular mechanism of insulin action.
Yamamoto-Honda R et al. (1990) Phosphorylation state and biological function of a mutant human insulin receptor Val996.
Kadowaki T et al. (1988) Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.
Kadowaki T et al. (1988) Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.
Kakehi T et al. (1988) Defective processing of insulin-receptor precursor in cultured lymphocytes from a patient with extreme insulin resistance.
Yoshimasa Y et al. (1988) Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing.
RABSON SM et al. (1956) Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases.
Taylor SI et al. (1983) Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts.
Moller DE et al. (1988) Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance).
Grigorescu F et al. (1986) Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance.
Taira M et al. (1989) Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor.
Kadowaki T et al. (1990) Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.
Moller DE et al. (1990) Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor.
Moller DE et al. (1988) Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance).
Ebina Y et al. (1985) The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling.
Klinkhamer MP et al. (1989) A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.
Accili D et al. (1989) A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes.
Lander ES et al. (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.
Barnes ND et al. (1974) Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction.
Barnes ND et al. (1974) Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction.
Kadowaki T et al. (1990) Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.
Moncada VY et al. (1986) Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Evidence for defect before insertion of receptor into plasma membrane.
Shimada F et al. (1990) Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene.