Maturity onset diabetes of the young and pregnancy

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 24, Issue 4, 2010, Pages 605-615

  Colom, Cristina ^a   Corcoy, Rosa ^a,b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Birth weight; Gestational diabetes mellitus (GDM); MODY; Monogenic diabetes

Indexed keywords

CARBOXYL ESTER LIPASE; GLIBENCLAMIDE; GLUCOKINASE; GLUCOSE; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; KRUPPEL LIKE FACTOR; KRUPPEL LIKE FACTOR 11; NEUROGENIC DIFFERENTIATION FACTOR; ORAL ANTIDIABETIC AGENT; SULFONYLUREA; TRANSCRIPTION FACTOR PAX4; TRANSCRIPTION FACTOR PDX 1; TRIACYLGLYCEROL LIPASE; UNCLASSIFIED DRUG; HEPATOCYTE NUCLEAR FACTOR 1ALPHA;

BIRTH WEIGHT; BLOOD GLUCOSE MONITORING; DIABETIC MICROANGIOPATHY; DIET; DISEASE SEVERITY; FETUS GROWTH; FETUS OUTCOME; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLUCOSE TOLERANCE; HUMAN; MACROSOMIA; MATURITY ONSET DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; PHYSICAL ACTIVITY; PREGNANCY; PREGNANCY DIABETES MELLITUS; PREGNANCY OUTCOME; PREVALENCE; REVIEW; FEMALE; FETUS DEVELOPMENT; GENETICS; METABOLISM; MUTATION;

BLOOD GLUCOSE; DIABETES MELLITUS, TYPE 2; DIABETES, GESTATIONAL; FEMALE; FETAL DEVELOPMENT; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HUMANS; MUTATION; PREGNANCY; PREGNANCY IN DIABETICS; PREGNANCY OUTCOME; PREVALENCE;

EID: 79952115063     PISSN: 1521690X     EISSN: 15321908     Source Type: Journal    
DOI: 10.1016/j.beem.2010.05.008     Document Type: Review

References (59)

1. Tattersall RB. Mild familial diabetes with dominant inheritance. The Quarterly Journal of Medicine 1974; 43: 339-357.
2. Tattersall RB & Fajans SS. A difference between the inheritance of classical juvenile-onset and maturity-onset diabetes. Diabetes 1975; 24: 44-53.
3. Johansen K & Gregersen G. A family with dominantly inherited mild juvenile diabetes. Acta Medica Scandinavica 1977; 201: 567-570. (Pubitemid 8135453)
4. Nelson PG & Pyke DA. Genetic diabetes not linked to the HLA locus. British Medical Journal 1976; 1: 196-197.
5. Glaser B. Dominant SUR1 mutation causing autosomal dominant type 2 diabetes (commentary). Lancet 2003; 361: 272-273. (Pubitemid 36126183)
6. Edghill EL, Minton JA, Groves CJ et al. Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. Journal of the Pancreas 2010; 1: 14-17.
7. Vaxillaire M, Pueyo ME, Clément K et al. Insulin secretion and insulin sensitivity in diabetic and non-diabetic subjects with hepatic nuclear factor-1alpha (maturity-onset diabetes of the young-3) mutations. European Journal of Endocrinology 1999; 141: 609-618. (Pubitemid 30064761)
8. Raile K, Klopocki E, Holder M et al. Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. The Journal of Clinical Endocrinology and Metabolism 2009; 94: 2658-2664.
9. 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. Diabetic Medicine 2009; 26: 437-441.
10. Vaxillaire M & Froguel P. Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocrine Reviews 2008; 29: 254-264. (Pubitemid 351679698)
11. Murphy R, Ellard S & Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nature Clinical Practice. Endocrinology & Metabolism 2008; 4: 200-213. (Pubitemid 351430925)
12. Edghill EL, Flanagan SE, Patch AM et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008; 57: 1034-1042.
13. Winckler W, Weedon MN, Graham RR et al. Evaluation of common variants in the six known maturity - onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes 2007; 56: 685-692.
14. Holmkvist J, Almgren P, Lyssenko V et al. Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes. Diabetes 2008; 57: 1738-1744.
15. Shaat N, Karlsson E, Lernmark A et al. Common variants in MODY genes increase the risk of gestational diabetes mellitus. Diabetologia 2006; 49. pp. 1545-1451.
16. Ellard S, Bellanné-Chantelot C, Hattersley AT, & European Molecular Genetics Quality Network (EMQN) MODY group. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008; 51: 546-553.
17. Yanagisawa K, Uchigata Y, Sanaka M et al. Mutation in the mitochondrial tRNA(leu) at position 3243 and spontaneous abortions in Japanese women attending a clinic for diabetic pregnancies. Diabetologia 1995; 38: 809-815.
18. Zoualli H, Vaxillaire M, Lesage S et al. Linkage analysis and molecular scanning of glucokinase gene in NIDDM families. Diabetes 1993; 42: 1238-1245. (Pubitemid 23259842)
19. Stoffel M, Bell KL, Blackburn CL et al. Identification of glucokinase mutations in subjects with gestational diabetes mellitus. Diabetes 1993; 42: 937-940. (Pubitemid 23151590)
20. Chiu KC, Go RC, AoKi M et al. Glucokinase gene in gestational diabetes mellitus: population association study and molecular scanning. Diabetologia 1994; 37: 104-110. (Pubitemid 24044715)
21. Saker PJ, Hattersley AT, Barrow B et al. High prevalence of missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population. Diabetologia 1996; 39: 1325-1328. (Pubitemid 26356061)
22. Allan CJ, Agryopoulos G, Bowker M et al. Gestational diabetes mellitus and gene mutations which affect insulin secretion. Diabetes Research and Clinical Practice 1997; 36: 135-141. (Pubitemid 27306816)
23. Ellard S, Beards F, Allen LIS et al. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia 2000; 43: 250-253. (Pubitemid 30126833)
24. Kousta E, Ellard S, Allen LIS et al. Glucokinase mutations in phenotypically selected multiethnic group of women with a history of gestational diabetes. Diabetic Medicine 2001; 18: 683-687.
25. Weng J, Ekelund M, Lehto et al. Screening for MODY mutations, GAD antibodies, and type 1diabetes- associated HLA genotypes in women with gestational diabetes mellitus. Diabetes Care 2002; 25: 68-71. (Pubitemid 41070785)
26. Zurawek M, Wender-Ozegowska E, Januszkiewicz-Lewandowska D et al. GCK and HNF1alpha mutations and polymorphisms in Polish women with gestational diabetes. Diabetes Research and Clinical Practice 2007; 76: 157-158. (Pubitemid 46240363)
27. Pedersen J. Weight and length at birth of infants of diabetic mothers. Acta Endocrinologica 1954; 16: 330-342.
28. Hatttersley AT, Beards F, Ballantyne E et al. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nature Genetics 1998; 19: 268-270. (Pubitemid 28309340)
29. Matschinsky F, Liang Y, Kesavan P et al. Glucokinase as pancreatic beta cell glucose sensor and diabetes gene. The Journal of Clinical Investigation 1993; 92: 2092-2098. (Pubitemid 23333511)
30. Byrne MM, Sturis J, Clément K et al. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. The Journal of Clinical Investigation 1994; 93: 1120-1130. (Pubitemid 24087166)
31. 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: 753-757.
32. Velho G, Hattersley AT & Froguel P. Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity. Diabetologia 2000; 43: 1060-1063. (Pubitemid 30655727)
33. Barrio R, Bellanné-Chantelot C, Moreno JC et al. Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. The Journal of Clinical Endocrinology and Metabolism 2002; 87: 2532-2539. (Pubitemid 34655310)
34. Shehadeh N, Bakri D, Njølstad PR & Gershoni-Baruch R. Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). Diabetic Medicine 2005; 22: 994-998. (Pubitemid 41025994)
35. Estalella I, Rica I, Perez de Nanclares G, et al. Spainsh MODY Group. Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. Clinical Endocrinology 2007; 67: 538-546. (Pubitemid 47416311)
36. Spyer G, Macleod KM, Shepherd M et al. Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation. Diabetic Medicine 2009; 26: 14-18.
37. Weedon MN, Clark VJ, Qian Y et al. A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. American Journal of Human Genetics 2006; 79: 991-1001. (Pubitemid 44853472)
38. Pettit DJ, Aleck KA, Baird HR et al. Congenital susceptibility to NIDDM: role of intrauterine environment. Diabetes 1988; 37:622-628.
39. Sobngwi E, Boudou P, Mauvais-Jarvis F et al. Effect of a diabetic environment in utero on predisposition to type 2 diabetes. Lancet 2003; 361: 1861-1865. (Pubitemid 36645181)
40. Singh R, Pearson ER, Clark PM & Hattersley AT. The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations. Diabetologia 2007; 50: 620-624. (Pubitemid 46215506)
41. Spyer G, Hatersley AT, Sykes JE et al. Influence of maternal and fetal glucokinase mutations in gestational diabetes. American Journal of Obstetrics and Gynecology 2001; 185: 240-241. (Pubitemid 32681826)
42. Kjos SL & Schaefer-Graf UM. Modified therapy for gestational diabetes using high-risk and low-risk fetal abdominal circumference growth to select strict versus relaxed maternal glycemic targets. Diabetes Care 2007; 30(Suppl. 2): S200-S205. (Pubitemid 47036425)
43. Metzger BE, Buchanan TA, Coustan DR et al. Summary and recommendations of the Fifth International Workshop Conference on gestational diabetes mellitus. Diabetes Care 2007; 30: S251-S260. (Pubitemid 47036434)
44. Guenat E, Seematter G, Philippe J et al. Counterregulatory responses to hypoglycemia in patients with glucokinase gene mutations. Diabetes & Metabolism 2000; 26: 377-384.
45. Langer O, Conway DL, Berkus MD et al. A comparison of glyburide and insulin in women with gestational diabetes mellitus. The New England Journal of Medicine 2000; 343: 1134-1138.
46. Porzio O, Marlier LN, Federici M et al. GLUT2 and glucokinase expression is coordinately regulated by sulfonylurea. Molecular and Cellular Endocrinology 1999; 153: 155-161. (Pubitemid 29339166)
47. Turkkahraman D, Bircan I, Tribble ND et al. Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. The Journal of Pediatrics 2008; 153: 122-126.
48. Kitzmiller JL, Block JM, Brown FM et al. Managing preexisting diabetes for pregnancy: summary of evidence and consensus recommendations for care. Diabetes Care 2008; 31: 1060-1079.
49. Frayling TM, Evans JC, Bulman MP et al. Beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 2001; 50(suppl): S94-S100. (Pubitemid 32148228)
50. Pearson ER, Boj SF, Steele AM et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Medicine 2007; 4: e118.
51. Stride A, Shepherd M, Frayling M et al. Intrauterine hyperglycaemia is associated with an earlier diagnosis of diabetes in HNF-1 alpha gene mutations carriers. Diabetes Care 2002; 25: 2287-2291. (Pubitemid 41071042)
52. Klupa T, Warram JH, Antonellis A et al. Determinants of the development of diabetes (maturity-onset-diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. Diabetes Care 2002; 25: 2292-2301.
53. Pearson ER, Starkey BJ, Powell RJ et al. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 2003; 362: 1275-1281. (Pubitemid 37324255)
54. Kapoor RR, Locke J, Colclough K et al. Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes 2008; 57: 1659-1663.
55. Conn JJ, Simm PJ, Oats JJ et al. Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. The Australian & New Zealand Journal of Obstetrics & Gynaecology 2009; 49: 328-330.
56. Flanagan S, Kapoor R, Mali G et al. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. European Journal of Endocrinology 2010 [epub ahead of print].
57. Gragnoli C, Stanojevic V, Gorini A et al. IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes. Metabolism 2005; 54: 983-988. (Pubitemid 41033096)
58. Edghill EL, Bigham C, Slingerland AS et al. Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1B in human pancreatic development. Diabetic Medicine 2006; 23: 1301-1306. (Pubitemid 44787792)
59. Sagen JV, Baumann ME, Salvesen HB et al. Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus. Diabetic Medicine 2005; 22: 1012-1015. (Pubitemid 41025997)