Clinical implications of a molecular genetic classification of monogenic β-cell diabetes

Nature Clinical Practice Endocrinology and Metabolism

Volumn 4, Issue 4, 2008, Pages 200-213

  Murphy, Rinki ^a   Ellard, Sian ^a   Hattersley, Andrew T ^a  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

Genetics; Glucokinase; Maturity onset diabetes of the young; Neonatal diabetes; Transcription factor

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; GLIBENCLAMIDE; GLICLAZIDE; GLUCOKINASE; HEMOGLOBIN A1C; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; METFORMIN; ORAL ANTIDIABETIC AGENT; SULFONYLUREA; SULFONYLUREA RECEPTOR 1;

CELL FUNCTION; CLINICAL FEATURE; CLINICAL GENETICS; DIABETES MELLITUS; DIAGNOSTIC ERROR; DIET RESTRICTION; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; DRUG DOSE REDUCTION; DRUG MEGADOSE; DRUG PENETRATION; DRUG RECEPTOR BINDING; DRUG SUBSTITUTION; DRUG WITHDRAWAL; EARLY INTERVENTION; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOME IMPRINTING; GLYCEMIC CONTROL; HEARING IMPAIRMENT; HUMAN; HYPERGLYCEMIA; INSULIN DEPENDENT DIABETES MELLITUS; KIDNEY CYST; KIDNEY DISEASE; KNOWLEDGE; LACTIC ACIDOSIS; LOW DRUG DOSE; MATURITY ONSET DIABETES MELLITUS; MITOCHONDRION; MOLECULAR GENETICS; NEWBORN DISEASE; NON INSULIN DEPENDENT DIABETES MELLITUS; ONSET AGE; PANCREAS ISLET BETA CELL; PATHOPHYSIOLOGY; PHENOTYPE; PLACENTA; PREDICTION; PREVALENCE; PRIORITY JOURNAL; REVIEW; SYNDROME; TREATMENT RESPONSE;

ATP-BINDING CASSETTE TRANSPORTERS; DIABETES MELLITUS; DIAGNOSIS, DIFFERENTIAL; FEMALE; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; INFANT, NEWBORN; INSULIN-SECRETING CELLS; MALE; MUTATION; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG;

EID: 41149084500     PISSN: 17458366     EISSN: 17458374     Source Type: Journal    
DOI: 10.1038/ncpendmet0778     Document Type: Review

References (92)

1. Tattersall RB (1974) Mild familial diabetes with dominant inheritance. Q J Med 43: 339-357
2. Raeder H et al. (2007) Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase. Diabetes 56: 444-449
3. Raeder H et al. (2006) Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet 38: 54-62
4. Stride A and Hattersley AT (2002) Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann Med 34: 207-216
5. Alberti KG and Zimmet PZ (1998) Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diabet Med 15: 539-553
6. Lehto M et al. (1999) Mutation in the HNF-4α gene affects insulin secretion and triglyceride metabolism. Diabetes 48: 423-425
7. Pearson E et al. (2003) HDL-cholesterol: differentiating between HNF-1α MODY and type 2 diabetes [abstract]. Diabet Med 20 (Suppl 2): S1-S33
8. Pearson ER et al. (2005) Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection. Diabetologia 48: 878-885
9. Iafusco D et al. (2002) Permanent diabetes mellitus in the first year of life. Diabetologia 45: 798-804
10. Edghill EL et al. (2006) Mutations in hepatocyte nuclear factor-1β and their related phenotypes. J Med Genet 43: 84-90
11. Flanagan SE et al. (2007) Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 56: 1930-1937
12. Gloyn AL et al. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 350: 1838-1849
13. Sagen J et al. (2004) Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 53: 2713-2718
14. Vaxillaire M et al. (2004) Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 53: 2719-2722
15. Flanagan SE et al. (2006) Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia 49: 1190-1197
16. Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 355: 456-466
17. Ellard S et al. (2007) Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet 81: 375-382
18. Pearson ER et al. (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 355: 467-477
19. Vaxillaire M et al. (2007) New ABCC8 mutations in relapsing neonatal diabetes and clinical features. Diabetes 56: 1737-1741
20. Hattersley AT and Ashcroft FM (2005) Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes 54: 2503-2513
21. Slingerland AS and Hattersley AT (2005) Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment. Ann Med 37: 186-195
22. Patch AM et al. (2007) Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. Diabetes Obes Metab 9 (Suppl 2): S28-S39
23. Masia R et al. (2007) An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. Diabetes 56: 328-336
24. Shimomura K et al. (2006) Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Diabetes 55: 1705-1712
25. Codner E et al. (2005) High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care 28: 758-759
26. Slingerland AS et al. (2006) Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Diabetologia 49: 2559-2563
27. Edghill EL et al. (2007) Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. J Clin Endocrinol Metab 92: 1773-1777
28. Gloyn AL et al. (2004) Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the β-cell potassium adenosine triphosphate channel. J Clin Endocrinol Metab 89: 3932-3935
29. Temple IK et al. (2000) Transient neonatal diabetes mellitus: widening our understanding of the aetiopathogenesis of diabetes. Diabetes 49: 1359-1366
30. Temple IK and Shield JP (2002) Transient neonatal diabetes, a disorder of imprinting. J Med Genet 39: 872-875
31. Stoy J et al. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A 104: 15040-15044
32. Schnyder S et al. (2005) Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss Med Wkly 135: 352-356
33. Matyka KA et al. (1998) Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia. Arch Dis Child 78: 552-554
34. Ellard S et al. (2000) A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia 43: 250-253
35. Matschinsky FM (1993) Evolution of the glucokinase glucose sensor paradigm for pancreatic β cells. Diabetologia 36: 1215-1217
36. Stride A et al. (2002) The genetic abnormality in the β cell determines the response to an oral glucose load. Diabetologia 45: 427-435
37. Velho G et al. (1997) Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 40: 217-224
38. Froguel P et al. (1993) Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 328: 697-702
39. Spyer G et al. (2001) Influence of maternal and fetal glucokinase mutations in gestational diabetes. Am J Obstet Gynecol 185: 240-241
40. Hattersley AT et al. (1998) Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet 19: 268-270
41. Velho G et al. (2000) Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity. Diabetologia 43: 1060-1063
42. Byrne MM et al. (1996) Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes 45: 1503-1510
43. Isomaa B et al. (1998) Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 41: 467-473
44. Stride A et al. (2005) β-Cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1α mutation carriers. Diabetes Care 28: 1751-1756
45. Ellard S and Colclough K (2006) Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 α (HNF1A) and 4 α (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 27: 854-869
46. Shepherd M et al. (2001) Genetic testing in maturity onset diabetes of the young (MODY): a new challenge for the diabetic clinic. Pract Diab Int 18: 16-21
47. Harries LW et al. (2006) Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 α show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet 15: 2216-2224
48. Stride A et al. (2002) Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1a gene mutation carriers. Diabetes Care 25: 2287-2291
49. Pearson ER et al. (2003) Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 362: 1275-1281
50. Langer O et al. (2000) A comparison of glyburide and insulin in women with gestational diabetes mellitus. N Engl J Med 343: 1134-1138
51. Liljestrom B et al. (2005) Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer. Diabetologia 48: 242-250
52. Pearson ER et al. (2007) Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 4: e118
53. Kristinsson SY et al. (2001) MODY in Iceland is associated with mutations in HNF-1α and a novel mutation in NeuroD1. Diabetologia 44: 2098-2103
54. Liu L et al. (2007) A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family. Mol Cell Biochem 303: 115-120
55. Malecki MT et al. (1999) Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 23: 323-328
56. Stoffers D et al. (1997) Early-onset diabetes mellitus (MODY4) linked to IPF1. Nat Genet 17: 138-139
57. Plengvidhya N et al. (2007) PAX4 mutations in Thais with maturity onset diabetes of the young. J Clin Endocrinol Metab 92: 2821-2826
58. Bingham C and Hattersley AT (2004) Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1β. Nephrol Dial Transplant 19: 2703-2708
59. Lindner TH et al. (1999) A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β. Hum Mol Genet 8: 2001-2008
60. Edghill EL et al. (2006) Hepatocyte nuclear factor-1 β mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1β in human pancreatic development. Diabet Med 23: 1301-1306
61. Pearson ER et al. (2004) Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1β and -1β mutations. Diabetes Care 27: 1102-1107
62. Gudmundsson J et al. (2007) Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 39: 977-983
63. Ulinski T et al. (2005) Renal phenotypes related to hepatocyte nuclear factor-1β (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 17: 497-503
64. Bellanne-Chantelot C et al. (2005) Large genomic rearrangements in the hepatocyte nuclear factor-1β (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 54: 3126-3132
65. Yorifuji T et al. (2004) Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1β gene due to germline mosaicism. J Clin Endocrinol Metab 89: 2905-2908
66. Goto Y-i et al. (1990) A mutation in the tRNA Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653
67. Guillausseau PJ et al. (2004) Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (maternally inherited diabetes and deafness or MIDD). Diabetes Metab 30: 181-186
68. Guillausseau PJ et al. (2001) Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 134: 721-728
69. Maassen JA et al. (2004) Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 53 (Suppl 1): S103-S109
70. Murphy R et al. (2007) Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med [doi:10.1111/j.1464- 5491.2007.02359.x]
71. Kobayashi T et al. (1997) In situ characterization of islets in diabetes with a mitochondrial DNA mutation at nucleotide position 3243. Diabetes 46: 1567-1571
72. Lynn S et al. (2003) Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic β cells. Diabetologia 46: 296-299
73. Kadowaki T (1994) Mutations in the mitochondrial gene in patients with NIDDM [Japanese]. Nippon Rinsho 52: 2708-2714
74. Walker M et al. (1995) Insulin and proinsulin secretion in subjects with abnormal glucose tolerance and a mitochondrial tRNA Leu(UUR) mutation. Diabetes Care 18: 1507-1509
75. Maassen JA (2002) Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis. Am J Med Genet 115: 66-70
76. Diabetes Genes [www.diabetesgenes.org]
77. Njolstad PR et al. (2003) Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. Diabetes 52: 2854-2860
78. Njolstad PR et al. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 344: 1588-1592
79. Porter JR et al. (2005) Permanent neonatal diabetes in an Asian infant. J Pediatr 146: 131-133
80. Yoo HW et al. (2002) Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. Eur J Pediatr 161: 351-353
81. Senee V et al. (2006) Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet 38: 682-687
82. Taha D et al. (2003) Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome? Am J Med Genet A 122: 269-273
83. Sellick GS et al. (2004) Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 36: 1301-1305
84. Schwitzgebel VM et al. (2003) Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. J Clin Endocrinol Metab 88: 4398-4406
85. Delepine M et al. (2000) EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet 25: 406-409
86. Iyer S et al. (2004) Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. Acta Paediatr 93: 1195-1201
87. Senee V et al. (2004) Wolcott-Rallison syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes 53: 1876-1883
88. Baud O et al. (2001) Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med 344: 1758-1762
89. Bennett CL et al. (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 27: 20-21
90. Chatila TA et al. (2000) JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunityallergic disregulation syndrome. J Clin Invest 106: R75-R81
91. Wildin R et al. (2001) X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 27: 18-20
92. Wildin RS et al. (2002) Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 39: 537-545