Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families

Diabetologia

Volumn 40, Issue 2, 1997, Pages 217-224

  Velho, G ^a   Blanche H ^b   Vaxillaire, M ^c   Bellanne Chantelot C ^b   Pardini, V C ^d   Timsit, J ^e   Passa, Ph ^a   Deschamps, I ^e   Robert, J J ^e   Weber, I T ^f   Marotta, D ^g   Pilkis, S J ^g   Lipkind, G M ^h   Bell, G I ^h   Froguel, Ph ^c  

^a SAINT LOUIS HOSPITAL   (France)

^b FONDATION JEAN DAUSSET CEPH   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d CEPEN   (Brazil)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f THOMAS JEFFERSON UNIVERSITY   (United States)

^g UNIVERSITY OF MINNESOTA   (United States)

^h UNIVERSITY OF CHICAGO   (United States)

Author keywords

Diabetes mellitus; Genetics; Glucokinase mutations; Insulin secretion; MODY

Indexed keywords

GLUCOKINASE;

ARTICLE; DIABETES MELLITUS; DYSLIPIDEMIA; ENZYME DEFICIENCY; GLUCOSE INTOLERANCE; GLYCOGEN SYNTHESIS; HUMAN; HYPERGLYCEMIA; HYPERTENSION; INSULIN RELEASE; MAJOR CLINICAL STUDY; MUTATION; OBESITY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 2; FAMILY HEALTH; GENETIC SCREENING; GLUCOKINASE; HUMANS; HYPERGLYCEMIA; INFANT; INFANT, NEWBORN; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 8044260804     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001250050666     Document Type: Article

References (32)

1. Fajans SS (1990) Scope and heterogeneous nature of MODY. Diabetes Care 13: 49-64
2. Ledermann HM (1995) Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed? Lancet 345: 648 (Letter)
3. Bell GI, Xiang KS, Newman MV et al. (1991) Gene for non insulin dependent diabetes mellitus (maturity onset diabetes of the young subtype) is linked to DNA polymorphism on chromosome 20q. Proc Natl Acad Sci USA 88: 1484-1488
4. Froguel P, Zouali H, Vionnet N et al. (1993) Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N Engl J Med 328: 697-702
5. Vaxillaire M, Boccio V, Philippi A et al. (1995) A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. Nature Genetics 9: 418-423
6. Velho G, Froguel P, Clément K et al. (1992) Primary pancreatic beta-cell secretory defect caused by mutations in the glucokinase in kindreds of maturity onset diabetes of the young. Lancet 340: 444-448
7. Byrne MM, Sturis J, Clément K et al. (1994) Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest 93: 1120-1130
8. Velho G, Petersen KF, Perseghin G et al. (1996) Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects. J Clin Invest: 98: 1755-1761
9. Clément K, Pueyo ME, Vaxillaire M et al. (1996) Assessment of insulin sensitivity in glucokinase-deficient subjects. Diabetologia 39: 82-90
10. Zouali H, Vaxillaire M, Lesage S et al. (1993) Linkage analysis and molecular scanning of the glucokinase gene in NIDDM families. Diabetes 42: 1238-1245
11. Hager J, Blanché H, Sun F et al. (1994) Six mutations in the glucokinase gene identified in MODY using a nonradioactive sensitive screening technique. Diabetes 43: 730-733
12. WHO Study Group on Diabetes Mellitus (1985) Report. Technical Report Series no 727. World Health Organization, Geneva
13. Stoffel M, Froguel P, Takeda J et al. (1992) Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. Proc Natl Acad Sci USA 89: 7698-7702
14. Blanché H, Hager J, Sun F et al. (1994) Nonradioactive screening of glucokinase mutations in maturity onset diabetes of the young. Biotechniques 16: 866-875
15. Katagiri H, Asano T, Ishihara H et al. (1992) Nonsense mutation of glucokinase gene in late onset non insulin dependent diabetes mellitus. Lancet 340: 1316-1317
16. Sakura H, Eto K, Kadowaki H et al. (1992) Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non insulin dependent diabetes mellitus. J Clin Endocrinol Metab 75: 1571-1573
17. Cooper DN, Krawczak M, Antonarakis SE (1995) The nature and mechanisms of human gene mutations. In: Scriver CR (ed) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 259-291
18. Elbein SC, Hoffman M, Qin H, Chiu K, Tanizawa Y, Permutt MA (1994) Molecular screening of the glucokinase gene in familial type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia 37: 182-187
19. Velho G, Vaxillaire M, Boccio V, Charpentier G, Froguel P (1996) Diabetes complications in NIDDM kindreds linked to the MODY-3 locus on chromosome 12q. Diabetes Care 19: 915-919
20. Maioli M, Bertini C, Maioli M et al. (1996) A new missense mutation in the glucokinase gene in a Sardinian Mody family. Diabetes 45 [Suppl 2]: 78A (Abstract)
21. Gidh-Jain M, Takeda J, Xu LZ et al. (1993) Glucokinase mutations associated with non insulin dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships. Proc Natl Acad Sci USA 90: 1932-1936
22. Dussoix P, Zahnd G, Iynedjian PB, Tiercy J-M, Spinas GA, Philippe J (1995) Diagnosis of diabetes in the young. Diahetologia 38 [Suppl 1]: A60 (Abstract)
23. Stoffel M, Patel P, Lo YMD et al. (1992) Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nature Genetics 2: 153-156
24. Stoffel M, Bell KL, Blackburn CL et al. (1993) Identification of glucokinase mutations in subjects with gestational diabetes mellitus. Diabetes 42: 937-940
25. Shimada F, Makino H, Hashimoto N et al. (1993) Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family. Diabetologia 36: 433-437
26. Nakamura M, House DV, Winter WE (1996) Novel mutations in the glucokinase (GCK) genes of a patient with atypical diabetes mellitus (ADM) of African Americans. Diabetes 45 [Suppl 2]: 77A (Abstract)
27. Takeda J, Gidh-Jain M, Xu LZ et al. (1993) Structure/function studies of human glucokinase: enzymatic properties of sequence polymorphism, mutations associated with diabetes, and other site-directed mutants. J Biol Chem 268: 15200-15204
28. Xu LZ, Zhang W, Weber IT, Harrison RW, Pilkis SJ (1994) Site-directed mutagenesis studies on the determinants of sugar specificity and cooperative behavior of human beta cell glucokinase. J Biol Chem 269: 27458-27465
29. Pilkis SJ, Weber IT, Harrison RW, Bell GI (1994) Glucokinase: structural analysis of a protein involved in susceptibility to diabetes. J Biol Chem 269: 21925-21928
30. St. Charles RS, Harrison RW, Bell GL, Pilkis SJ, Weber IT (1994) Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase b. Diabetes 43: 784-791
31. Liang Y, Kesavan P, Wang LQ et al. (1995) Variable effects of maturity onset diabetes of youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme. Biochem J 309: 167-173
32. Veiga da Cunha M, Courtois S, Michel A, Gosselain E, Van Schaftingen E (1996) Amino acid conservation in animal glucokinases: identification of residues implicated in the interaction with the regulatory protein. J Biol Chem 271: 6292-6297