Three novel mutations in MODY and its phenotype in three different Czech families

Diabetes Research and Clinical Practice

Volumn 88, Issue 2, 2010, Pages 132-138

  Bazalova Z ^a   Rypackova B ^a   Broz J ^a   Brunerova L ^a   Polák, J ^a   Rusavy Z ^a   Treslova L ^a   Andel M ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

GCK; HNF1A; MODY; Novel mutation

Indexed keywords

CYTOSINE; GLIBENCLAMIDE; GLICLAZIDE; GLUCOKINASE; GUANINE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; METFORMIN; ORAL ANTIDIABETIC AGENT; SULFONYLUREA; THYMINE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CZECH REPUBLIC; DIABETIC DIET; DRUG RESPONSE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HETEROZYGOTE; HUMAN; LOW DRUG DOSE; MALE; MATURITY ONSET DIABETES MELLITUS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE;

CZECHOSLOVAKIA; DIABETES MELLITUS; DIET THERAPY; FAMILY HEALTH; GLICLAZIDE; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; HYPOGLYCEMIC AGENTS; INSULIN; MUTATION; PEDIGREE; PHENOTYPE; TREATMENT OUTCOME;

EID: 77952888956     PISSN: 01688227     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.diabres.2010.01.005     Document Type: Article

References (29)

1. Tattersall R. Maturity-onset diabetes of the young: a clinical history. Diabet. Med. 1998, 15(1):11-14.
2. Fajans S.S., Bell G.I., Bowden D.W., Halter J.B., Polonsky K.S. Maturity onset diabetes of the young (MODY). Diabet. Med. 1996, 13:90-95.
3. Pearson E.R. Recent advances in the genetics of diabetes. Prim Care Diabetes 2008, 2(2):67-72.
4. Stride A., Hattersley A.T. Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann. Med. 2002, 34:207-216.
5. Neve B., Fernandez-Zapico M.E., Ashkenazi-Katalan V., Dina C., Hamid Y.H., Joly E., et al. Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. Proc. Natl. Acad. Sci. 2005, 102(13):4807-4812.
6. Plengvidhya N., Kooptiwut S., Songtawee N., Doi A., Furuta H., Nishi M., et al. PAX4 mutations in Thais with maturity onset diabetes of the young. J. Clin. Endocr. Metab. 2007, 92:2821-2826.
7. Frayling T.M., Lindgren C.M., Chevre J.C., Menzel S., Wishart M., Benmezroua Y., et al. A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogenity. Diabetes 2003, 52(3):872-881.
8. Bellanné-Chantelot C., Carette C., Riveline J.P., Valéro R., Gautier J.F., Larger E., et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 2008, 57:503-509.
9. Ellard S., Colclough K. Mutations in the genes enconding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum. Mutat. 2006, 27(9):854-869.
10. Shepherd M., Hattersley A.T. I don't feel like a diabetic anymore: the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing. Clin. Med. 2004, 4:144-147.
11. Shepherd M., Ellis I., Ahmad A.M., Todd P.J., Bowen-Jones D., Ellard S., et al. Predictive genetic testing in maturity-onset diabetes of the young (MODY). Diabet. Med. 2001, 18:421-717.
12. Boutin P., Vasseur F., Samson C., Wahl C., Froguel P. Routine mutation screening of HNF-1α and GCK genes in MODY diagnosis: how effective are the techniques of DHPLC and direct sequencing used in combination?. Diabetologia 2001, 44:775-778.
13. Consensus Committee Consensus statement on the worldwide standardization of the hemoglobin A1C measurement: the American Diabetes Association, European Association for the Study of Diabetes, International Federation of Clinical Chemistry and Laboratory Medicine, and the International Diabetes Federation. Diabetes Care 2007, 30(9):2399-2400.
14. Hattersley A.T., Bruining J., Shield J., Njolstad P., Donaghue K. ISPAD clinical practice consensus guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. Pediatr. Diabetes 2006, 7:352-360.
15. Shepherd M., Pearson E.R., Houghton J., Salt G., Ellard S., Hattersley A.T. No deterioration in glycemic control in HNF1A maturity onset diabetes of the young following transfer from long term insulin to sulphonylureas. Diabetes Care 2003, 26(11):3191-3192.
16. Guidance for transferring HNF1A of HNF4A patients from insulin to sulphonylureas. http://www.diabetesgenes.org/.
17. Pearson E.R., Liddell W.G., Shepherd M., Corrall R.J., Hattersley A.T. Sensitivity to sulphoylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet. Med. 2000, 17(7):543-545.
18. Harries L.W., Ellard S., Stride A., Morgan N.G., Hattersley A.T. Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum. Mol. Genet. 2006, 15(14):2216-2224.
19. Isomaa B., Henricsson M., Lehto M., Forsblom C., Karanko S., Serelin L., et al. Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 1998, 41:467-473.
20. Shepherd M., Shields B., Ellard S., Rubio-Cabezas O., Hattersley A.T. A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet. Med. 2009, 26(4):437-441.
21. Gidh-Jain M., Takeda J., Xu L.Z., Lange A.J., Vionnet N., Stoffel M., et al. Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships. Proc. Natl. Acad. Sci. 1993, 90:1932-1936.
22. Pilkis S.J., Weber I.T., Harrison R.W., Bell G.I. Glucokinase: structural analysis of a protein involved in susceptibility to diabetes. J. Biol. Chem. 1994, 35:21925-21928.
23. Velho G., Blanché H., Vaxillaire M., Bellané-Chantelot C., Pardini V.C., Timsit J., et al. Identification of 14 new glucokinase mutations and derscription of the clinical profile of 42 MODY-2 families. Diabetologia 1997, 40:217-224.
24. Tack C.J.J., Ellard S., Hattersley A.T. A severe clinical phenotype results from the co-inheritance of type 2 susceptibility genes and a hepatocyte nuclear factor-1A mutation. Diabetes Care 2000, 23:424-425.
25. Ellard S., Bulman M.P., Frayling T.M., Allen L.I., Dronsfield M.J., et al. Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. Diabetes 1999, 48(4):921-923.
26. Pruhova S., Ek J., Lebl J., Sumnik Z., Saudek F., Andel M., et al. Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function. Diabetologia 2003, 46(2):291-295.
27. Yamagata K., Oda N., Kalsaki P.J., Menzel S., Furuta H., Vaxillaire M., et al. Mutations in the hepatocyte nuclear factor-1-alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996, 384:455-457.
28. Vaxillaire M., Rouard M., Yamagata K., Oda N., Kaisaki P.J., Boriraj V.V., et al. Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). Hum. Mol. Genet. 1997, 6(4):583-586.
29. Glucksmann M.A., Lehto M., Tayber O., Scotti S., Berkemeier L., Pulido J.C., et al. Novel mutations and a mutational hotspot in the MODY3 gene. Diabetes 1997, 46(6):1081-1086.