Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene

Diabetes Research and Clinical Practice

Volumn 83, Issue 3, 2009, Pages

  Ogawa, Wataru ^a   Iwamoto, Kazuya ^a   Mori, Hiroyuki ^a   Hashiramoto, Mitsuru ^a   Miyake, Kazuaki ^a   Sakaguchi, Kazuhiko ^a   Kasuga, Masato ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Compound heterozygous mutations; Insulin receptor gene; Type A insulin resistance

Indexed keywords

INSULIN RECEPTOR;

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIABETES MELLITUS; FEMALE; GENE MUTATION; GLUCOSE INTOLERANCE; HUMAN; INSULIN RESISTANCE; NUCLEOTIDE SEQUENCE; PHENOTYPE; TYPE A INSULIN RESISTANCE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ASPARTIC ACID; FEMALE; GENETIC VARIATION; GLUCOSE INTOLERANCE; GLYCINE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; INSULIN RESISTANCE; MUTATION; PHENOTYPE; PHOSPHOTYROSINE; RECEPTOR, INSULIN; SIBLINGS;

EID: 59349101538     PISSN: 01688227     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.diabres.2008.12.002     Document Type: Article

References (15)

1. Hagino H., Shii K., Yokono K., Matsuba H., Yoshida M., Hosomi Y., et al. Enzyme-linked immunosorbent assay method for human autophosphorylated insulin receptor. Applicability to insulin-resistant states. Diabetes 43 (1994) 274-280
2. Kahn C.R., Flier J.S., Bar R.S., Archer J.A., Gorden P., Martin M.M., et al. The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. N. Engl. J. Med. 294 (1976) 739-745
3. Yoshimasa Y., Seino S., Whittaker J., Kakehi T., Kosaki A., Kuzuya H., et al. Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. Science 240 (1988) 784-787
4. Kadowaki H., Beitz L., McKeon C., and Taylor S.I. Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. Science 240 (1988) 787-790
5. Musso C., Cochran E., Moran S.A., Skarulis M.C., Oral E.A., Taylor S., et al. Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore) 83 (2004) 209-222
6. Taylor S.I. Lilly lecture: molecular mechanisms of insulin resistance. Lessons from patients with mutations in the insulin-receptor gene. Diabetes 41 (1992) 1473-1490
7. Longo N., Wang Y., Smith S.A., Langley S.D., DiMeglio L.A., and Giannella-Neto D. Genotype-phenotype correlation in inherited severe insulin resistance. Hum. Mol. Genet. 11 (2002) 1465-1475
8. Taira M., Taira M., Hashimoto N., Shimada F., Suzuki Y., Kanatsuka A., et al. Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor. Science 245 (1989) 63-66
9. Odawara M., Kadowaki T., Yamamoto R., Shibasaki Y., Tobe K., Accili D., et al. Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. Science 245 (1989) 66-68
10. Accili D., Drago J., Lee E.J., Johnson M.D., Cool M.H., Salvatore P., et al. Early neonatal death in mice homozygous for a null allele of the insulin receptor gene. Nat. Genet. 12 (1996) 106-109
11. Baba T., Shimizu T., Suzuki Y., Ogawara M., Isono K., Koseki H., et al. Estrogen, insulin, and dietary signals cooperatively regulate longevity signals to enhance resistance to oxidative stress in mice. J. Biol. Chem. 280 (2005) 16417-16426
12. Kadowaki T., Kadowaki H., Rechler M.M., 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. Biol. Chem. 86 (1990) 254-264
13. Accili D., Frapier C., Mosthaf L., McKeon C., Elbein S.C., Permutt M.A., et al. A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. EMBO J. 8 (1989) 2509-2517
14. Maassen J.A., Tobias E.S., Kayserilli H., Tukel T., Yuksel-Apak M., D'Haens E., et al. Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J. Clin. Endocrinol. Metab. 88 (2003) 4251-4257
15. Hubbard S.R., Wei L., Ellis L., and Hendrickson W.A. Crystal structure of the tyrosine kinase domain of the human insulin receptor. Nature 372 (1994) 746-754