Recent advances in the genetics of maturity-onset diabetes of the young and other forms of autosomal dominant diabetes

Current Opinion in Endocrinology and Diabetes

Volumn 7, Issue 4, 2000, Pages 203-210

  Doria, Alessandro ^a   Plengvidhya, Nattachet ^a  

^a JOSLIN DIABETES CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

AUTOSOMAL DOMINANT DISORDER; GENE MUTATION; GENETIC ANALYSIS; GLUCOSE HOMEOSTASIS; HUMAN; INSULIN RELEASE; MATURITY ONSET DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; PANCREAS ISLET BETA CELL; PATHOPHYSIOLOGY; REVIEW;

EID: 0033911742     PISSN: 10683097     EISSN: None     Source Type: Journal    
DOI: 10.1097/00060793-200008000-00005     Document Type: Review

References (83)

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43. 43 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, 328:697-702.
44. 44 Velho G, Vaxillaire M, Boccio V, et al.: Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12 q. Diabetes Care 1996, 19:915-919.
45. 45 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.
46. 46 Doria A, Yang Y, Malecki M, et al.: Clinical characteristics of early-onset, autosomal dominant type-2 diabetes unlinked to known MODY genes. Diabetes Care 1999, 22:253-261. Clinical description of forms of early-onset type 2 diabetes that are not due to known MODY genes. Insulin-resistance, as well as an increased rate of diabetic complications, are demonstrated to be frequent features of this type of diabetes.
47. 47 Tack CJ, Ellard S, Hattersley AT: A severe clinical phenotype results from the co-inheritance of type 2 susceptibility genes and a hepatocyte nuclear factor-1α mutation. Diabetes Care 2000, 23:424-425. Short report attributing the particular severity of MODY observed in one family member to the simultaneous presence of type 2 diabetes susceptibility genes.
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66. 66 Mahtani MM, Widen E, Lehto M, et al.: Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet 1996, 14:90-96.
67. 67 Shaw JT, Lovelock PK, Kesting JB, et al.: Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q. Diabetes 1998, 47:1793-1796.
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70. 70 Zouali H, Hani EH, Philippi A, et al.: A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene. Hum Mol Genet 1997, 6:1401-1408.
71. 71 Ghosh S, Watanabe RM, Hauser ER, et al.: Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. Proc Natl Acad Sci USA 1999, 96:2198-2203. Partial results of a genome screen in the FUSION study families. Linkage is found at the same location as in three other previous studies [68-70], but is not due to HNF-4α mutations.
72. 72 Malecki MT, Antonellis A, Casey P, et al.: Exclusion of the hepatocyte nuclear factor 4alpha as a candidate gene for late-onset NIDDM linked with chromosome 20q. Diabetes 1998, 47:970-972.
73. 73 Macfarlane WM, Frayling TM, Ellard S, et al.: Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest 1999, 104:R33-39. Description of three IPF-1 mutations showing a weak association with type 2 diabetes in a large population. The paper includes a functional analysis demonstrating an impairment of insulin promoter activation in mutants.
74. 74 Hani EH, Stoffers DA, Chevre JC, et al.: Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest 1999, 104:R41-48. Similar results as those reported by Mcfarlane et al. [73]. In addition, the paper reports a three base pair insertion segregating with diabetes in two families.
75. 75 Hansen L, Urioste S, Petersen HV, et al.: Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in Caucasians. J Clin Endocrinol Metab 2000, 85:1323-1326. In contrast with the results of Macfarlane et al. [73] and Hani et al. [74], this study has failed to find a functional impact of IPF1 mutations, or their association with type 2 diabetes.
76. 76 Frayling TM, Bulamn MP, Ellard S, et al.: Mutations in the hepatocyte nuclear factor-1 alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 1997, 46:720-725.
77. 77 Vaxillaire M, Boccio V, Philippi A, et al: A gene for maturity onset diabetes of the young maps to chromosome 12q. Nat Genet 1995, 9:418-423.
78. 78 Bektas A, Warram JH, White MF, et al.: Exclusion of insulin receptor substrate 2 (IRS-2) as a major locus for early-onset, autosomal dominant type 2 diabetes. Diabetes 1999, 48:640-642. Mutation screening of an insulin-signaling intermediate (IRS-2) whose mouse knockout develops diabetes. No variants are associated with hyperglycemia in 29 families with autosomal dominant diabetes.
79. 79 Plengvidhya N, Antonellis A, Wogan LT, et al.: Hepatocyte nuclear factor (HNF) 4γ: cDNA sequence, gene organization and mutation screening in early-onset, autosomal dominant type 2 diabetes. Diabetes 1999, 48:2099-2102. Study of HNF-4γ-a transcription factor highly homologous to HNF-4α-as a candidate gene for autosomal dominant diabetes. The correct cDNA sequence and exon-intron structure are reported in the paper. No mutations segregating with diabetes are identified in 32 families.
80. 80 Yamada S, Zhu Q, Aihara Y, et al.: Cloning of cDNA and the gene encoding human hepatocyte nuclear factor (HNF)-3 beta and mutation screening in Japanese subjects with maturity-onset diabetes of the young. Diabetologia 2000, 43:121-124. First paper to report the human sequence of HNF-3β-a transcription factor placed near the top of the transcriptional hierarchy in beta-cells. One missense mutation is identified in a diabetic individual, but its relation to diabetes is unclear.
81. 81 Moller AM, Ek J, Durviaux SM, et al.: Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. Diabetologia 1999, 42:1011-1016. Mutation screening of HNF-6 in MODY and type 2 diabetes. Two variants are identified, but they are not associated with diabetes, despite the title of the paper.
82. 82 Dupont S, Vionnet N, Chevre JC, et al.: No evidence of linkage or diabetes-associated mutations in the transcription factors BETA2/NEUROD1 and PAX4 in type II diabetes in France. Diabetologia 1999, 42:480-484.
83. 83 Bektas A, Suprenant ME, Wogan LT, et al.: Evidence of a novel type 2 diabetes locus 50 cM centromeric to NIDDM2 on chromosome 12q. Diabetes 1999, 48:2246-2251. First description of a locus for autosomal dominant diabetes on 12q15. The evidence of linkage come from four of 32 families, two of which have a lod score greater than 2.0.