Diagnosis and management of maturity-onset diabetes of the young

Treatments in Endocrinology

Volumn 4, Issue 1, 2005, Pages 9-18

  Timsit, José ^a   Bellanné Chantelot, Christine ^b   Dubois Laforgue, Danièle ^a   Velho, Gilberto ^c  

^a Hôpital Cochin ^*  (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME ACTIVATOR; GLICLAZIDE; GLUCOKINASE; GLUCOKINASE ACTIVATOR; INSULIN; METFORMIN; NUCLEAR FACTOR I; NUCLEAR FACTOR IALPHA; NUCLEAR FACTOR IBETA; ORAL ANTIDIABETIC AGENT; SULFONYLUREA DERIVATIVE; TOLBUTAMIDE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ATROPHY; CARDIOVASCULAR DISEASE; CHILD; CLINICAL FEATURE; CLINICAL TRIAL; DIABETIC MICROANGIOPATHY; DIABETIC NEPHROPATHY; DIABETIC RETINOPATHY; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; DIET THERAPY; DISEASE COURSE; DISEASE SEVERITY; DOMINANT INHERITANCE; DRUG EFFECT; DRUG EFFICACY; DRUG INDICATION; DRUG MECHANISM; DRUG RESPONSE; DRUG SENSITIVITY; FAMILY; FAMILY HISTORY; FOLLOW UP; GENE EXPRESSION; GENE MUTATION; HUMAN; HYPERGLYCEMIA; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN RELEASE; INSULIN TREATMENT; LIVER DYSFUNCTION; MATURITY ONSET DIABETES MELLITUS; MATURITY ONSET DIABETES OF THE YOUNG; MATURITY ONSET DIABETES OF THE YOUNG TYPE 1; MATURITY ONSET DIABETES OF THE YOUNG TYPE 2; MATURITY ONSET DIABETES OF THE YOUNG TYPE 3; MATURITY ONSET DIABETES OF THE YOUNG TYPE 5; PANCREAS ATROPHY; PANCREAS DISEASE; PATHOPHYSIOLOGY; PENETRANCE; PRIORITY JOURNAL; PROGNOSIS; REVIEW; RISK FACTOR; SCREENING;

DIABETES MELLITUS, TYPE 2; DIABETIC NEPHROPATHIES; DIABETIC RETINOPATHY; DNA-BINDING PROTEINS; FEMALE; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; MUTATION; NUCLEAR PROTEINS; PREGNANCY; PUBERTY; TRANSCRIPTION FACTORS;

EID: 12344252712     PISSN: 11756349     EISSN: None     Source Type: Journal    
DOI: 10.2165/00024677-200504010-00002     Document Type: Review

References (104)

1. Fajans SS. Scope and heterogeneous nature of MODY. Diabetes Care 1990; 13: 49-64
2. Froguel P. Nuclear factors and type 2 diabetes. Schweiz Med Wochenschr 1998; 128: 1936-9
3. Malecki MT, Jhala US, Antonellis A, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 1999; 23: 323-8
4. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical physiopathology of maturity-onset diabetes of the young. N Engl J Med 2001; 345: 971-80
5. Hattersley AT. Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabet Med 1998; 15: 15-24
6. Frayling TM, Lingren CM, Chevre JC, et al. A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further heterogeneity. Diabetes 2003; 52: 872-81
7. Gloyn AL. Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat 2003; 22: 353-62
8. Njolstad PR, Sovik O, Cuesta-Munoz A, et al. Neonatal diabetes due to complete glucokinase deficiency. N Engl J Med 2001; 344: 1588-92
9. Gloyn AL, Ellard S, Shield JP, et al. Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes [letter]. Diabetologia 2002; 45: 290
10. Davis EA, Cuesta-Munoz A, Raoul M, et al. Mutants of glucokinase cause hypoglycaemia and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis. Diabetologia 1999; 42: 1175-86
11. Gidh-Jain M, Takeda J, Xu LZ, 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 U S A 1993; 90: 1932-6
12. Velho G, Froguel P, Gloyn A, et al. Maturity-onset diabetes of the young type 2. In: Magnuson M, Matschinsky F, editors. Glucokinase and glycemic diseases: from basics to novel therapeutics. Basel: Karger, 2004: 42-64
13. Velho G, Froguel P, Clément K, et al. Primary pancreatic beta-cell secretory defect caused by mutations in the glucokinase in kindreds of maturity-onset diabetes of the young. Lancet 1992; 340: 444-8
14. Byrne MM, Sturis J, Clément K, et al. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest 1994; 93: 1120-30
15. Pueyo ME, Clement K, Vaxillaire M, et al. Arginine-induced insulin release in glucokinase-deficient subjects. Diabetes Care 1994; 17: 1015-21
16. Sreenan SK, Cockburn BN, Baldwin AC, et al. Adaptation to hyperglycemia enhances insulin secretion in glucokinase mutant mice. Diabetes 1998; 47: 1881-8
17. Velho G, Petersen KF, Perseghin G, et al. Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects. J Clin Invest 1996; 98: 1755-61
18. Tappy L, Dussoix P, Iynedjian P, et al. Abnormal regulation of glucose output in maturity-onset diabetes of the young caused by a specific mutation of the glucokinase gene. Diabetes 1997; 46: 204-8
19. Clément K, Pueyo ME, Vaxillaire M, et al. Assessment of insulin sensitivity in glucokinase-deficient subjects. Diabetologia 1996; 39: 82-90
20. Froguel P, Zouali H, Vionnet N, et al. Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N Engl J Med 1993; 328: 729-31
21. Hattersley AH, Beards F, Ballantyne E, et al. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet 1998; 19: 268-70
22. 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: 1060-3
23. Terauchi Y, Kubota N, Tamemoto H, et al. Insulin effect during embryogenesis determines fetal growth: a possible molecular link between birth weight and susceptibility to type 2 diabetes. Diabetes 2000; 49: 82-6
24. Velho G, Blanché H, Vaxillaire M, et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 1997; 40: 217-24
25. Pearson ER, Velho G, Clark P, et al. β-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1α and glucokinase mutations. Diabetes 2001; 50 Suppl. 1: S101-7
26. Ellard S, Beards F, Allen LI, et al. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia 2000; 43: 250-3
27. Vehlo G, Vaxillaire M, Boccio V, et al. Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q. Diabetes Care 1996; 19: 915-9
28. Guenat E, Seematter G, Philippe J, et al. Counter-regulatory responses to hypoglycemia in patients with glucokinase gene mutations. Diabetes Metab 2000; 26: 377-84
29. Grimsby J, Sarabu R, Corbett WL, et al. Allosteric activators of glucokinase: potential role in diabetes therapy. Science 2003; 301: 370-3
30. Spyer G, Hattersley AT, Sykes JE, et al. Influence of maternal and fetal glucokinase mutations in gestational diabetes. Am J Obstet Gynecol 2001; 185: 240-1
31. Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature 1996; 384: 455-8
32. Velho G, Froguel P. Maturity-onset diabetes of the young (MODY), MODY genes, and non-insulin-dependent diabetes mellitus. Diabetes Metab 1997; 23: 34-7
33. Frayling TM, Bulman MP, Ellard S, et al. Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the United Kingdom. Diabetes 1997; 46: 720-5
34. Cox RD, Souyham L, Hashim Y, et al. UKPDS 31: hepatocyte nuclear factor-1 alpha (the MODY3 gene) mutations in late onset type II diabetic patients in the United Kingdom. United Kingdom Prospective Diabetes Study. Diabetologia 1999; 42: 120-1
35. Mendel DB, Hansen LP, Graves MK, et al. HNF-1 alpha and HNF-1beta (vHNF-1) share dimerization and homeodomains, but not activation domains, and form heterodimers in vitro. Genes Dev 1991; 5: 1042-56
36. Kaisaki PJ, Menzel S, Lindner T, et al. Mutations in the hepatocyte nuclear factor-1α gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes 1997; 46: 528-35
37. Gragnoli C, Lindner T, Cockburn BN, et al. Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene. Diabetes 1997; 46: 1648-51
38. Godait F, Bellanné-Chantelot C, Clauin S, et al. Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1α (TCF1) promoter region in MODY patients. Hum Mutat 2000; 15: 173-80
39. Pontoglio M, Barra J, Hadchouel M, et al. Hepatocyte nuclear factor-1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 1996; 84: 575-85
40. Shih DQ, Bussen M, Sehayek E, et al. Hepatocyte nuclear factor-1α is an essential regulator of bile acid and plasma cholesterol metabolism. Nat Genet 2001; 27: 375-82
41. Pontoglio M, Sreenan S, Roe M, et al. Defective insulin secretion in hepatocyte nuclear factor-1α-deficient mice. J Clin Invest 1998; 101: 2215-22
42. Dukes ID, Sreenan S, Roe MW, et al. Defective pancreatic β-cell glycolytic signaling in hepatocyte nuclear factor-1α-deficient mice. J Biol Chem 1998; 272: 24457-64
43. Wang H, Maechler P, Hagenfeldt KA, et al. Dominant-negative suppression of HNF-1α function results in defective insulin gene transcription and impaired metabolism-secretion coupling in a pancreatic β-cell line. EMBO J 1998; 17: 6701-13
44. Okita K, Yang Q, Yamagata K, et al. Human insulin gene is a target of hepatocyte nuclear factor-1α (HNF-1α) and HNF-1β. Biochem Biophys Res Commun 1999; 263: 566-9
45. Shih DQ, Screenan S, Munoz KN, et al. Loss of HNF-1α function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism. Diabetes 2001; 50: 2472-80
46. Vaxillaire M, Pueyo ME, Clément K, et al. Insulin secretion and insulin sensitivity in diabetic and non-diabetic subjects with hepatic nuclear factor-1α (maturity-onset diabetes of the young-3) mutations. Eur J Endocrinol 1999; 141: 609-18
47. Yang Q, Yamagata K, Yamamoto K, et al. Structure/function studies of hepatocyte nuclear factor-1 alpha, a diabetes-associated transcription factor. Biochem Biophys Res Commun 1999; 266: 196-202
48. Yoshiuchi Y, Yamagata K, Yang Q, et al. Three new mutations in the hepatocyte nuclear factor-1 alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization. Diabetologia 1999; 42: 621-6
49. Harries LW, Hattersley AT, Ellard S. Messenger RNA transcripts of the hepatocyte nuclear factor-1α gene containing premature termination codons are subject to nonsense-mediated decay. Diabetes 2004; 53: 500-4
50. Ellard S. Hepatocyte nuclear factor-1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum Mutat 2000; 16: 377-85
51. Frayling TM, Evans JC, Bulman MP, et al. B-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 2001; 50 Suppl. 1: S94-100
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-1α mutations. Diabetes Care 2002; 25: 2292-301
53. Lento 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: 582-91
54. Sumerly JF, Guenat E, Philippe J, et al. Glucose utilization and production in patients with maturity-onset diabetes of the young caused by a mutation of the hepatocyte nuclear factor-1α gene. Diabetes 1998; 47: 1459-63
55. Miedzybrodzka Z, Hattersley AT, Ellard S, et al. Non-penetrance in a MODY3 family with a mutation in the hepatocyte nuclear factor-1 alpha gene: implications for predictive testing. Eur J Hum Genet 1999; 7: 729-32
56. Stride A, Sepherd M, Frayling TM, et al. Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in gene mutation carriers. Diabetes Care 2002; 25: 2287-91
57. Kim SH, Ma X, Klupa T, et al. Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of HNF-1α mutations map to chromosomes 5p15, 9q22, and 14q24. Diabetes 2003; 52: 2182-6
58. Menzel R, Kaisaki PJ, Rjasanowski I, et al. A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor- 1α (HNF-1α) gene. Diabet Med 1998; 15: 816-20
59. Pontoglio M, Prie D, Chenet C, et al. HNF-1α controls renal glucose reabsorption in mouse and man. EMBO Rep 2000; 11: 359-65
60. Owen KR, Stride A, Ellard S, et al. Etiological investigation in young adults presenting with apparent type 2 diabetes. Diabetes Care 2003; 26: 2088-93
61. Moller AM, Dalgaard LT, Pociot F, et al. Mutations in the hepatocyte nuclear factor-1α gene in Caucasian families originally classified as having type 1 diabetes. Diabetologia 1998; 41: 1528-31
62. Kawazaki E, Sera Y, Yamakawa K, et al. Identification and functional analysis of mutations in the hepatocyte nuclear factor-] alpha gene in anti-islet autoantibody-negative Japanese patients with type 1 diabetes. J Clin Endocrinol Metab 2000; 85: 331-5
63. Owen KR, Sheperd M, Stride A, et al. Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics. Diabet Med 2002; 19: 758-61
64. Isomaa B, Henricsson M, Lehto M, et al. Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 1998; 41: 467-73
65. Pearson ER, Liddell WG, Shepherd M, et al. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1 alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med 2000; 17: 543-5
66. Pearson ER, Starkey BJ, Powell RJ, et al. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 2003; 362: 1275-81
67. Doria A, Yang Y, Malecki M, et al. Phenotypic characteristics of early-onset autosomal-dominant type 2 diabetes unlinked to known maturity-onset diabetes of the young (MODY) genes. Diabetes Care 1999; 22: 253-61
68. Shepherd M, Pearson ER, Houghton J, et al. No deterioration in glycemic control in HNF-1 alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas. Diabetes Care 2003; 26: 3191-2
69. Bluteau O, Jeannot E, Bioulac-Sage P, et al. Bi-allelic inactivation of TCF1 in hepatic adenomas. Nat Genet 2002; 32: 312-5
70. Bacq Y, Jacquemin E, Balabaud C, et al. Familial liver adenomatosis associated with hepatocyte nuclear factor-1 alpha inactivation. Gastroenterology 2003; 125: 1470-5
71. Reznik Y, Dao T, Coutant R, et al. Hepatocyte nuclear factor-1 alpha gene inactivation: co-segregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families. J Clin Endocrinol Metab 2004; 89: 1476-80
72. Gragnoli C, Lindner T, Cockburn BN, et al. Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene. Diabetes 1997; 46: 1648-51
73. Thomas H, Jaschkowitz K, Bulman M, et al. A distant upstream promoter of the HNF-4 alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet 2001; 10: 2089-97
74. Stoffel M, Duncan SA. The maturity-onset diabetes of the young (MODY1) transcription factor HNF-4 alpha regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci U S A 1997; 94: 13209-14
75. Parviz F, Matullo C, Garrison WD, et al. Hepatocyte nuclear factor-4α controls the development of a hepatic epithelium and liver morphogenesis. Nat Genet 2003; 34: 292-6
76. Stoffers DA, Ferrer J, Clarke WL, et al. Early-onset type II diabetes mellitus (MODY4) linked to IPF-1. Nat Genet 1997; 17: 138-9
77. Clocquet AR, Egan JM, Stoffers DA, et al. Impaired insulin secretion and increased insulin sensitivity in familial maturity-onset diabetes of the young 4 (insulin promoter factor 1 gene). Diabetes 2000; 49: 1856-64
78. Cockburn BN, Bermano G, Boodram LL, et al. Insulin promoter factor-1 and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family. J Clin Endocrinol Metab 2004; 89: 971-8
79. Shih DQ, Stoffel M. Dissecting the transcriptional network of pancreatic islets during development and differentiation. Proc Natl Acad Sci U S A 2001; 98: 14189-91
80. Reber M, Cereghini S. Variant hepatocyte nuclear factor 1 expression in the mouse genital tract. Mech Dev 2001; 100: 75-8
81. Coffinier C, Barra J, Babinet C, et al. Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis. Mech Dev 1999; 89: 211-3
82. Coffmier C, Gresh L, Fiette L, et al. Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta. Development 2002; 129: 1829-38
83. Kolatsi-Joannou M, Bingham C, Ellard S, et al. Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol 2001; 12: 2175-80
84. Gresh L, Fischer E, Reimann A, et al. A transcriptional network in polycystic kidney disease. EMBO J 2004; 23: 1657-68
85. Hiesberger T, Bai Y, Shao X, et al. Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest 2004; 113: 814-25
86. Ward CJ, Hogan MC, Rossetti S, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 2002; 30: 259-69
87. Horikawa Y, Iwasaki N, Hara M, et al. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 1997; 17: 384-5
88. Nishigori H, Yamada S, Kohama T, et al. Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. Diabetes 1998; 47: 1354-5
89. Iwasaki N, Ogata M, Tomonaga H, et al. Liver and kidney function in Japanese patients with maturity-onset diabetes of the young. Diabetes Care 1998; 21: 2144-8
90. Lindner TH, Njolstad PR, Horikawa Y, et al. 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-1beta. Hum Mol Genet 1999; 8: 2001-8
91. Bingham C, Ellard S, Allen L, et al. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1beta. Kidney Int 2000; 57: 898-907
92. Bingham C, Bulman MP, Ellard S, et al. Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 2001; 68: 219-24
93. Iwasaki N, Okabe I, Momoi MY, et al. Splice site mutation in the hepatocyte nuclear factor-1beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. Diabetologia 2001; 44: 387-8
94. Carbone I, Cotellessa M, Barella C, et al. A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes. Diabetologia 2002; 45: 153-4
95. Yoshiuchi I, Yamagata K, Zhu Q, et al. Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY. Diabetologia 2002; 45: 154-5
96. Bingham C, Ellard S, Cole TR, et al. Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int 2002; 61: 1243-51
97. Montoli A, Colussi G, Massa O, et al. Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1beta gene: description of a new family with associated liver involvement. Am J Kidney Dis 2002; 40: 397-402
98. Furuta H, Furuta M, Sanke T, et al. Nonsense and missense mutations in the human hepatocyte nuclear factor-1beta gene (TCF2) and their relation to type 2 diabetes in Japanese. J Clin Endocrinol Metab 2002; 87: 3859-63
99. Waller SC, Rees L, Woolf AS, et al. Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1 beta gene. Am J Kidney Dis 2002; 40: 1325-30
100. Mache CJ, Preisegger KH, Kopp S, et al. De novo HNF-1beta gene mutation in familial hypoplastic glomerulocystic kidney disease. Pediatr Nephrol 2002; 17: 1021-6
101. Bellanné-Chantelot C, Chauveau D, Gautier JF, et al. Clinical spectrum associated with hepatocyte nuclear factor-1β mutations. Ann Intern Med 2004; 140: 510-7
102. Yamada S, Tomura H, Nishigori H, et al. Identification of mutations in the hepatocyte nuclear factor-1 alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins. Diabetes 1999; 48: 645-8
103. Rizzoni G, Loirat C, Levy M, et al. Familial hypoplastic glomerulocystic kidney: a new entity? Clin Nephrol 1982; 18: 263-8
104. Bingham C, Ellard S, van't Hoff WG, et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int 2003; 63: 1645-51