Clinical utility gene card for: Maturity-onset diabetes of the young

European Journal of Human Genetics

Volumn 22, Issue 9, 2014, Pages 1154-

  Colclough, Kevin ^a   Saint Martin, Cécile ^b   Timsit, José ^c   Ellard, Sian ^a,d   Bellanné Chantelot, Christine ^b  

^a ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^b SORBONNE UNIVERSITÉ   (France)

^c Department of Diabetology and Endocrinology AP HP Groupe Hospitalier Cochin Hôtel Dieu Université Paris Descartes ^*  (France)

^d UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; ETHNIC GROUP; FAMILY HISTORY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; LIFESTYLE; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; ANALYTIC METHOD; CLINICAL FEATURE; CLINICAL UTILITY GENE CARD; DIABETIC PATIENT; DIAGNOSTIC TEST; FAMILIAL DISEASE; FAMILY; GENERAL MEDICAL DEVICE; GENETIC RISK; HIGH RISK PATIENT; INCIDENCE; PATIENT RISK; SENSITIVITY AND SPECIFICITY; VALIDATION PROCESS; DIABETES MELLITUS, TYPE 2; GENETICS; MUTATION;

GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; HEPATOCYTE NUCLEAR FACTOR 4; HNF1A PROTEIN, HUMAN; HNF4A PROTEIN, HUMAN;

DIABETES MELLITUS, TYPE 2; GENETIC TESTING; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; MUTATION;

EID: 84906249698     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.14     Document Type: Article

References (40)

1. Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S: Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat 2013; 34: 669-685.
2. Osbak KK, Colclough K, Saint-Martin C et al: Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat 2009; 30: 1512-1526.
3. Carette C, Dubois-Laforgue D, Saint-Martin C et al: Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies. Diabet Med 2010; 27: 1454-1458.
4. Ellard S, Thomas K, Edghill EL et al: Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia 2007; 50: 2313-2317.
5. Dusatkova P, Pruhova S, Borowiec M et al: Ancestral mutations may cause a significant proportion of GCK-MODY. Pediatr Diabetes 2012; 13: 489-498.
6. Stanik J, Dusatkova P, Cinek O et al: De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed. Diabetologia 2013; e-pub ahead of print 10 December 2013.
7. Bellanne-Chantelot C, Carette C, Riveline JP 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: 503-508.
8. Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT: 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: 2216-2224.
9. Harries LW, Locke JM, Shields B et al: The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes 2008; 57: 1745-1752.
10. Ellard S, Lango Allen H, De Franco E et al: Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia 2013; 56: 1958-1963.
11. Johansson S, Irgens H, Chudasama KK et al: Exome sequencing and genetic testing for MODY. PLoS One 2012; 7: e38050.
12. Raeder H, Bjorkhaug L, Johansson S et al: A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry. Diabetes 2006; 55: 1899-1903.
13. Thanabalasingham G, Kaur K, Talbot F et al: Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations. Diabet Med 2013; 30: e233-e238.
14. Irgens HU, Molnes J, Johansson BB et al: Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. Diabetologia 2013; 56: 1512-1519.
15. Fendler W, Borowiec M, Baranowska-Jazwiecka A et al: Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign. Diabetologia 2012; 55: 2631-2635.
16. Neu A, Feldhahn L, Ehehalt S, Hub R, Ranke MB: Type 2 diabetes mellitus in children and adolescents is still a rare disease in Germany: a population-based assessment of the prevalence of type 2 diabetes and MODY in patients aged 0-20 years. Pediatr Diabetes 2009; 10: 468-473.
17. Gilliam LK, Pihoker C, Ellard S et al: Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab 2013; 98: 4055-4062.
18. Shields BM, McDonald TJ, Ellard S, Campbell MJ, Hyde C, Hattersley AT: The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia 2012; 55: 1265-1272.
19. Bellanne-Chantelot C, Levy DJ, Carette C et al: Clinical Characteristics and Diagnostic Criteria of Maturity-Onset Diabetes Of The Young (MODY) due to Molecular Anomalies of the HNF1A Gene. J Clin Endocrinol Metab 2011; 96: E1346-E1351.
20. Chakera AJ, Carleton VL, Ellard S et al: Antenatal diagnosis of fetal genotype determines if maternal hyperglycemia due to a glucokinase mutation requires treatment. Diabetes Care 2012; 35: 1832-1834.
21. Gloyn AL, Ellard S, Shepherd M et al: Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene. Diabetes 2002; 51: 2329-2333.
22. Steele AM, Tribble ND, Caswell R et al: The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY. Diabetologia 2011; 54: 2202-2205.
23. Gorus FK, Goubert P, Semakula C et al: IA-2-Autoantibodies complement GAD65-Autoantibodies in new-onset IDDM patients and help predict impending diabetes in their siblings. The Belgian Diabetes Registry. Diabetologia 1997; 40: 95-99.
24. McDonald TJ, Colclough K, Brown R et al: Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med 2011; 28: 1028-1033.
25. Wilmot-Roussel H, Levy DJ, Carette C et al: Factors associated with the presence of glutamic acid decarboxylase and islet antigen-2 autoantibodies in patients with longstanding type 1 diabetes. Diabetes Metab 2013; 39: 244-249.
26. Besser RE, Shepherd MH, McDonald TJ et al: Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes. Diabetes Care 2011; 34: 286-291.
27. Besser RE, Shields BM, Hammersley SE et al: Home urine C-peptide creatinine ratio (UCPCR) testing can identify type 2 and MODY in pediatric diabetes. Pediatr Diabetes 2013; 14: 181-188.
28. McDonald TJ, Shields BM, Lawry J et al: High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes. Diabetes Care 2011; 34: 1860-1862.
29. Owen KR, Thanabalasingham G, James TJ et al: Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. Diabetes Care 2010; 33: 1919-1924.
30. Edghill EL, Stals K, Oram RA, Shepherd MH, Hattersley AT, Ellard S: HNF1B deletions in patients with young-onset diabetes but no known renal disease. Diabet Med 2013; 30: 114-117.
31. Stride A, Vaxillaire M, Tuomi T et al: The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia 2002; 45: 427-435.
32. Shepherd M, Ellis I, Ahmad AM et al: Predictive genetic testing in maturity-onset diabetes of the young (MODY). Diabet Med 2001; 18: 417-421.
33. Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT: Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 2003; 362: 1275-1281.
34. Shepherd M, Shields B, Ellard S, Rubio-Cabezas O, Hattersley AT: A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med 2009; 26: 437-441.
35. Tuomi T, Honkanen EH, Isomaa B, Sarelin L, Groop LC: Improved prandial glucose control with lower risk of hypoglycemia with nateglinide than with glibenclamide in patients with maturity-onset diabetes of the young type 3. Diabetes Care 2006; 29: 189-194.
36. Stride A, Shields B, Gill-Carey O et al: Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia 2014; 57: 54-56.
37. Steele AM, Shields BM, Shepherd M, Ellard S, Hattersley AT, Pearson ER: Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. Diabet Med 2010; 27: 157-161.
38. Steele AM, Wensley KJ, Ellard S et al: Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. PLoS One 2013; 8: e65326.
39. Pearson ER, Boj SF, Steele AM et al: Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 2007; 4: e118.
40. Lehto M, Tuomi T, Mahtani MM et al: Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect. J Clin Invest 1997; 99: 582-591.