Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families

Prenatal Diagnosis

Volumn 17, Issue 7, 1997, Pages 657-663

  Desbois Mouthon, C ^a   Girodon, E ^b   Ghanem, N ^b   Caron, M ^a   Pennerath, A ^c   Conteville, P ^b   Magre, J ^a   Besmond, C ^b   Goossens, M ^b   Capeau, J ^a   Amselem, S ^b  

^a INSERM   (France)

^b HENRI MONDOR HOSPITAL   (France)

^c INSTITUT DE RECHERCHES INTERNATIONALES SERVIER   (France)

Author keywords

DGGE; Insulin receptor gene; Leprechaunism; Prenatal diagnosis

Indexed keywords

GLUCOSE; INSULIN; INSULIN RECEPTOR;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; EXON; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GLUCOSE HOMEOSTASIS; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; INSULIN RESISTANCE; LEPRECHAUNISM; MALE; METHODOLOGY; MISSENSE MUTATION; MOLECULAR BIOLOGY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECEPTOR GENE; SIGNAL TRANSDUCTION; SOUTHERN BLOTTING;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; FEMALE; GENES, RECESSIVE; GROWTH DISORDERS; HUMANS; INFANT; INSULIN RESISTANCE; MALE; PEDIGREE; PREDICTIVE VALUE OF TESTS; PRENATAL DIAGNOSIS; RECEPTOR, INSULIN; SYNDROME;

EID: 0030928385     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199707)17:7<657::AID-PD132>3.0.CO;2-8     Document Type: Article

References (28)

1. Cheatham, B., Kahn, C.R. (1995). Insulin action and the insulin signalling network, Endocrine Rev., 16, 117-142.
2. Desbois, C., Magré, J., Blanquet, V., Capeau, J., Goossens, M., Besmond, C. (1993). Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis, Hum. Mutat., 2, 395-403.
3. Desbois-Mouthon, C., Magré, J., Amselem, S., Reynet, C., Blivet, M.J., Goossens, M., Capeau, J., Besmond, C. (1995). Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene, J. Clin. Endocrinol. Metab., 80, 314-319.
4. Desbois-Mouthon, C., Danan, C., Amselem, S., Blivet-Van Eggelpoel, M.-J., Sert-Langeron, C., Goossens, M., Besmond, C., Capeau, J., Caron, M. (1996a). Severe resistance to insulin and insulin-like growth factor-1 in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor, Metabolism, 45, 1493-1500.
5. 281 in the a-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization, J. Clin. Endocrinol. Metab., 81, 719-727.
6. Donohue, W.L., Uchida, I. (1954). Leprechaunism: a euphemism for a rare familial disorder, J. Pediatr., 45, 505-519.
7. Ebina, Y., Ellis, L., Jarnagin, K., Edery, M., Graf, L., Clauser, E., Ou, J.-H., Masiarz, F., Kan, Y.W., Goldfine, I.D., Roth, R.A., Rutter, W.J. (1985). The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling, Cell. 40, 747-758.
8. Elbein, S.C., Corsetti, L., Ullrich, A., Permutt, M.A. (1986). Multiple restriction fragment length polymorphisms at the insulin receptor locus: a highly informative marker for linkage analysis, Proc. Natl. Acad. Sci. USA, 83, 5223-5227.
9. Ghanem, N., Fanen, P., Martin, J., Conteville, P., Yahia-Cherif, Z., Vidaud, M., Goossens, M. (1992a). Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: applications to genetic counselling in cystic fibrosis, Mol. Cell Probes, 6, 27-31.
10. Ghanem, N., Girodon, E., Vidaud, M., Martin, J., Fanen, P., Plassa, F., Goossens, M. (1992b). A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms, Hum. Mutat., 1, 229-239.
11. Hone, J., Accili, D., Psiachou, H., Alaghband-Zadeh, J., Mitton, S., Wertheimer, E., Sinclair, L., Taylor, S.I. (1995). Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism, Hum. Mutat., 6, 17-22.
12. Hovnanian, A., Hilal, L., Blanchet-Bardon, C., Bodemer, C., de Prost, Y., Stark, C.A., Christiano, A.M., Dommergues, M., Terwilliger, J.D., Izquierdo, L., Conteville, P., Dumez, Y., Uitto, J., Goossens, M. (1995). DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence, J. Invest. Dermatol., 104, 456-461.
13. Kadowaki, T., Bevins, C.E., Cama, A., Ojamaa, K., Marcus-Samuels, B., Kadowaki, H., Beitz, L., McKeon, C., Taylor, S.I. (1988). Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance, Science, 240, 787-790.
14. Krook, A., Bell, J.A., Robertson, M.E., Brueton, L., O'Rahilly, S. (1995). Prenatal analysis of the insulin receptor gene in a family with leprechaunism, Prenat. Diagn., 15, 669-671.
15. Longo, N., Langley, S.D., Griffin, L.D., Elsas, L.J. (1995a). Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis, J. Clin. Endocrinol. Metab., 80, 1496-1501.
16. Longo, N., Langley, S.D., Still, M.J., Elsas, L.J. (1995b). Prenatal analysis of the insulin receptor gene in a family with leprechaunism, Prenat. Diagn., 15, 1070-1074.
17. Maassen, J.A., Lindhout, D., Reuss, A., Kleijer, W.J. (1990). Prenatal analysis of insulin receptor autophosphorylation in a family with leprechaunism, Prenat. Diagn., 10, 13-16.
18. Makino, H., Taira, M., Shimada, F., Hashimoto, N., Suzuki, Y., Nozaki, O., Hatanaka, Y., Yoshida, S. (1992). Insulin receptor gene mutation: a molecular genetical and functional analysis, Cell. Signalling, 4, 351-363.
19. Myers, R.M., Maniatis, T., Lerman, L.S. (1987). Detection and localization of single base changes by denaturing gradient gel electrophoresis, Methods Enzymol., 155, 501-527.
20. Nakae, J., Morioka, H., Ohtsuka, E., Fujieda, K. (1995). Replacements of leucine 87 in human insulin receptor alter affinity for insulin, J. Biol. Chem., 270, 22017-22022.
21. Sambrook, J., Fritsch, E.F., Maniatis, T. (1989). Molecular Cloning: A Laboratory Manual, 2nd edn, Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
22. Seino, S., Seino, M., Bell, G.I. (1990). Human insulin-receptor gene: partial sequence and amplification of exons by polymerase chain reaction, Diabetes, 39, 123-128.
23. Shimada, F., Taira, M., Suzuki, Y., Hashimoto, N., Nozaki, O., Taira, M., Tatibana, M., Ebina, Y., Tawata, M., Onaya, T., Makino, H., Yoshida, S. (1990). Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene, Lancet, 335, 1179-1181.
24. Taira, M., Taira, M., Hashimoto, N., Shimada, F., Suzuki, Y., Kanatsuka, A., Nakamura, F., Ebina, Y., Tatibana, M., Makino, H., Yoshida, S. (1989). Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor, Science, 245, 63-66.
25. Taylor, S.I. (1992). Lilly Lecture: Molecular mechanisms of insulin resistance, Diabetes, 41, 1473-1490.
26. Taylor, S.I., Kadowaki, T., Kadowaki, H., Accili, D., Cama, A., McKeon, C. (1990). Mutations in insulin-receptor gene in insulin-resistant patients, Diabetes Care, 13, 257-279.
27. Wertheimer, E., Lu, S.-P., Backeljauw, P.F., Davenport, M.L., Taylor, S.I. (1993). Homozygous deletion of the human insulin receptor gene results in leprechaunism, Nature Genet., 5, 71-73.
28. Yang-Feng, T.L., Francke, U., Ullrich, A. (1985). Gene for human insulin receptor localization to site on chromosome 19 involved in pre-B-cell leukemia, Science, 228, 728-731.