#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

DNA diagnostics of the most common forms of monogenic diabetes in Slovakia


Authors: Daniela Gašperíková 1;  Terézia Valkovičová 1;  Martina Škopková 1;  Juraj Staník 1,2
Authors‘ workplace: DIABGENE & Ústav experimentálnej endokrinológie, Biomedicínske centrum SAV, Bratislava 1;  Detská klinika LF UK a NÚDCH, Bratislava 2
Published in: Diab Obez 2019; 19(37): 13-19
Category:

Overview

Monogenic diabetes mellitus is a type of diabetes, where genetics without any other factors is strong enough to cause the disease. It is an etiologically very heterogeneous group of diseases, with more than 20 causal genes. Due to clinical similarity to major types of diabetes, the differentiation and definitive diagnosis is allowed only by methods of DNA analysis. Identifying people with monogenic diabetes is also important for specific treatment and prognosis of diabetes.

Received 23. 4. 2019

Accepted 8. 5. 2019

Keywords:

DNA analysis – MODY monogenic diabetes mellitus


Sources
  1. Mayer-Davis EJ, Kahkoska AR, Jefferies C et al. ISPAD Clinical Practice Consensus Guidelines 2018: Definition, epidemiology, and classification of diabetes in children and adolescents. Pediatr Diabetes 2018; 19(Suppl 27): Dostupné z DOI: <http://dx.doi.org/10.1111/pedi.12773>.

  2. Hattersley A, Bruining J, Shield J et al. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2009; 10(Suppl 12): 33–42. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1399–5448.2009.00571.x>.

  3. Thanabalasingham G, Pal A, Selwood MP et al. Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care 2012; 35(6):1206–1212. Dostupné z DOI: <http://dx.doi.org/10.2337/dc11–1243>.

  4. Murphy R, Turnbull DM, Walker M et al. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med 2008; 25(4): 383–399. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1464–5491.2008.02359.x>.

  5. Kanakatti Shankar R, Pihoker C, Dolan LM et al. Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. Pediatr Diabetes 2013; 14(3): 174–180. Dostupné z DOI: <http://dx.doi.org/10.1111/pedi.12003>.

  6. Slingerland AS, Shields BM, Flanagan SE et al. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia 2009; 52(8): 1683–1685. Dostupné z DOI: <http://dx.doi.org/10.1007/s00125–009–1416–6>.

  7. Stanik J, Gasperikova D, Paskova M et al. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab 2007; 92(4): 1276–1282. Dostupné z DOI: <http://dx.doi.org/10.1210/jc.2006–2490>.

  8. McDonald TJ, Besser RE, Perry M et al. Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement. Diabetologia 2017; 60(11): 2168–2173. Dostupné z DOI: <http://dx.doi.org/10.1007/s00125–017–4383–3>.

  9. Vaxillaire M, Bonnefond A, Froguel P et al. Breakthroughs in monogenic diabetes genetics: from pediatric forms to young adulthood diabetes. Pediatr Endocrinol Rev 2009; 6(3): 405–417.

  10. Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 2008; 4(4): 200–213. Dostupné z DOI: <http://dx.doi.org/10.1038/ncpendmet0778>.

  11. Colombo C, Geraci C, Suprani T et al. Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. J Endocrinol Invest 2011; 34(3): 252–253. Dostupné z DOI: <http://dx.doi.org/10.1007/BF03347074>.

  12. 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(4): e118. Dostupné z DOI: <http://dx.doi.org/10.1371/journal.pmed.0040118>.

  13. Stanik J, Skopkova M, Brennerova K et al. Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. Diabetes Res Clin Pract 2017; 126: 144–150. Dostupné z DOI: <http://dx.doi.org/10.1016/j.diabres.2017.02.014>.

  14. Katra B, Klupa T, Skupien J et al. Dipeptidyl peptidase-IV inhibitors are efficient adjunct therapy in HNF1A maturity-onset diabetes of the young patients--report of two cases. Diabetes Technol Ther 2010; 12(4): 313–316. Dostupné z DOI: <http://dx.doi.org/10.1089/dia.2009.0159>.

  15. Fajans SS, Floyd JC, Tattersall RB et al. The various faces of diabetes in the young: changing concepts. Arch Intern Med 1976; 136(2): 194–202.

  16. 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 2014; 57(3): 480–484. Dostupné z DOI: <http://dx.doi.org/10.1007/s00125–013–3119–2>.

  17. Tattersall RB. Mild familial diabetes with dominant inheritance. Q J Med 1974; 43(170): 339–357.

  18. Ellard S, Bellanne-Chantelot C, Hattersley AT et al. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008; 51(4): 546–553. Dostupné z DOI: <http://dx.doi.org/10.1007/s00125–008–0942-y>.

  19. Valentinova L, Beer NL, Stanik J et al. Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. PLoS One 2012; 7(4): e34541. Dostupné z DOI: <http://dx.doi.org/10.1371/journal.pone.0034541>.

  20. Shields BM, Hicks S, Shepherd MH et al. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010; 53(12): 2504–2508. Dostupné z DOI: <http://dx.doi.org/10.1007/s00125–010–1799–4>.

  21. Codner E, Rocha A, Deng L et al. Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus. Pediatr Diabetes 2009; 10(6): 382–388. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1399–5448.2009.00499.x>.

  22. Gloyn AL, van de Bunt M, Stratton IM et al. Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia. Diabetologia 2009; 52(1): 172–174. Dostupné z DOI: <http://dx.doi.org/10.1007/s00125–008–1188–4>.

  23. Javouhey E, Ranchin B, Lachaux A et al. Long-lasting extracorporeal albumin dialysis in a child with end-stage renal disease and severe cholestasis. Pediatr Transplant 2009; 13(2): 235–239. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1399–3046.2008.00946.x>.

  24. Chakera AJ, Spyer G, Vincent N et al. The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort. Diabetes Care 2014; 37(5): 1230–1236. Dostupné z DOI: <http://dx.doi.org/10.2337/dc13–2248>.

  25. Fendler W, Malachowska B, Baranowska-Jazwiecka A et al. Population-based estimates for double diabetes amongst people with glucokinase monogenic diabetes, GCK-MODY. Diabet Med 2014; 31(7): 881–883. Dostupné z DOI: <http://dx.doi.org/10.1111/dme.12449>.

  26. Althari S, Gloyn AL. When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes. Rev Diabet Stud 2015; 12(3–4): 330–348. Dostupné z DOI: <http://dx.doi.org/10.1900/RDS.2015.12.330>.

  27. Richards S, Aziz N, Bale S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17(5): 405–424. Dostupné z DOI: <http://dx.doi.org/10.1038/gim.2015.30>.

  28. Bjorkhaug L, Sagen JV, Thorsby P et al. Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. J Clin Endocrinol Metab 2003; 88(2): 920–931. Dostupné z DOI: <http://dx.doi.org/10.1210/jc.2002–020945>.

  29. Rose RB, Bayle JH, Endrizzi JA et al. Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha. Nat Struct Biol 2000; 7(9): 744–748. Dostupné z DOI: <http://dx.doi.org/10.1038/78966>.

  30. Harries LW, Ellard S, Stride A et al. 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. Dostupné z DOI: <http://dx.doi.org/10.1093/hmg/ddl147>.

  31. Gloyn AL, Odili S, Zelent D et al. Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. J Biol Chem 2005; 280(14): 14105–14113. Dostupné z DOI: <http://dx.doi.org/10.1074/jbc.M413146200>.

  32. Babiker T, Vedovato N, Patel K et al. Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia 2016; 59(6): 1162–1166. Dostupné z DOI: <http://dx.doi.org/10.1007/s00125–016–3921–8>.

  33. Shepherd M, Shields B, Ellard S et al. 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. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1464–5491.2009.02690.x>.

  34. Shields BM, Spyer G, Slingerland AS et al. Mutations in the glucokinase gene of the fetus result in reduced placental weight. Diabetes Care 2008; 31(4): 753–757. Dostupné z DOI: <http://dx.doi.org/10.2337/dc07–1750>.

  35. Spyer G, Hattersley AT, Sykes JE et al. Influence of maternal and fetal glucokinase mutations in gestational diabetes. Am J Obstet Gynecol 2001; 185(1): 240–241. Dostupné z DOI: <http://dx.doi.org/10.1067/mob.2001.113127>.

Labels
Diabetology Obesitology
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#