In-frame exon 2 deletion in insulin receptor RNA in a family with extreme insulin resistance in association with defective insulin binding: A case report

European Journal of Endocrinology

Volumn 135, Issue 3, 1996, Pages 357-363

  Moritz, Wolfgang ^a   Böni Schnetzler, Marianne ^a   Stevens, Wayne ^b   Froesch, E Rudolf ^a   Levy, James R ^b  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b McGuire Veteran's Administration Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN RECEPTOR; MESSENGER RNA;

ADOLESCENT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DELETION MUTANT; FAMILIAL DISEASE; FEMALE; HUMAN; INSULIN RESISTANCE; PRIORITY JOURNAL;

EID: 0029861239     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1350357     Document Type: Article

References (24)

1. De Meyts P. The structural basis of insulin and insulin-like growth factor-I receptor binding and negative co-operativity, and its relevance to mitogenic versus metabolic signalling. Diabetologia 1994;37:135-8
2. White MF, Kahn CR. The insulin signaling system. J Biol Chem 1994;269:1-4
3. Cheatham B, Kahn CR. Insulin action and the insulin signaling network. Endocr Rev 1995;16:117-42
4. Ebina E, Ellis L, Jarnagin K, Edery M, Graf L, Clauser K, et al. The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. Cell 1985;40:747-58
5. Seino S, Seino M, Bell GI. Human insulin-receptor gene: partial sequence and amplification of exons by polymerase chain reaction. Diabetes 1990;39:123-8
6. Benecke H, Flier JS, Moller DE. Alternatively spliced variants of the human insulin receptor: expression of mRNA and protein in normal and diabetic tissues. J Clin Invest 1992;89:2066-70
7. Kadowaki T, Kadowaki H, Rechler MM, Serrano-Rios M, Roth J, Gorden P, et al. Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J Clin Invest 1990;86:254-64
8. Kadowaki T, Kadowaki H, Taylor SI. Substitution of lysine for asparagine at position 15 in the α-subunit of the human insulin receptor: a mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding. J Biol Chem 1990;265:19143-50
9. Longo N, Langly SD, Griffin LD, Elsas LJ. Activation of glucose transport by a natural mutation In the human insulin receptor. Proc Natl Acad Sci USA 1991;90:60-4
10. Kjeldsen T, Andersen A, Wiberg FC, Rasmussen JS, Schaffer L, Balschmidt P, et al. The ligand specificities of the insulin receptor and insulin-like growth factor I receptor reside in different regions of a common binding site. Proc Natl Acad Sci USA 1991;88: 4404-8
11. 2-terminal ligand binding site of the insulin receptor by alanine scanning mutagenesis. J Biol Chem 1995;270:3012-6
12. De Meyts P, Gu J, Shymko RM, Kaplan BE, Bell GI, Whittaker J. Identification of a ligand-binding region of the human insulin receptor encoded by the second exon of the gene. Mol Endocrinol 1990;4:409-16
13. Taylor SI, Samuels B, Roth J, Kasuga M, Hedo JA, Gorden P, et al. Decreased Insulin binding in cultured lymphocytes from two patients with extreme insulin resistance. J Clin Endocrinol Metab 1982;54:919-30
14. Davis LG, Dibner MD, Battey JF. Basic methods in molecular biology. New York: Elsevier, 1986
15. Munson PJ, Rodbard D. Ligand: a versatile computerized approach for characterization of ligand-binding systems. Anal Biochem 1980;107:220-39
16. Kusari J, Takata Y, Hatada E, Freidenberg G, Kolterman O, Olefsky JM. Insulin resistance and diabetes due to different mutation in the tyrosine kinase domain of both insulin receptor gene alleles. J Biol Chem 1991;266:5260-7
17. Hubbard SR, Wei L, Ellis L, Hendrickson WA. Crystal structure of the tyrosin kinase domain of the human insulin receptor. Nature 1994;372:746-54
18. Riedel H, Dull TJ, Schlessinger J. A chimaeric receptor allows insulin to stimulate tyrosine kinase activity of epidermal growth factor receptor. Nature 1986;324:68-70
19. Wertheimer E, Litvin Y, Ebstein RP, Bennett ER, Barbetti F, Accilli D, et al. Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance. J Clin Endocrinol Metab 1994;78:1153-8
20. Imano K, Kadowaki H, Kadowaki T, Iwama N, Watari T, Kawamori R, et al. Two patients with insulin resistance due to decreased levels of insulin-receptor mRNA. Diabetes 1991;40: 548-57
21. Taylor SI, Moller DE. Mutations of the insulin receptor gene. In: Moller DE, editor. Insulin resistance. New York: Wiley, 1993:83-121
22. Muller-Wieland D, Taub R, Tewari DS, Kriauciunas KM, Sethu S, Reddy K, et al. Insulin-receptor gene and its expression in patients with insulin resistance. Diabetes 1989;38:31-8
23. Tavare JM, Siddle K. Mutational analysis of insulin receptor function: consensus and controversy. Biochim Biophys Acta 1993;1178:21-39
24. Cama A, de la Luz Sierra M, Kadowaki T, Kadowaki H, Siegel G, D'Ambrosio D, et al. Two mutant alleles of the insulin receptor gene in a family with a genetic form of insulin resistance: a 10 base pair deletion in exon 1 and a mutation substituting serine for asparagine-462. Hum Genet 1995;95:174-82