Maturity-Onset Diabetes of the Young (mody) caused by a novel nonsense mutation E41X in the HNF-1αα gene

Experimental and Clinical Endocrinology and Diabetes

Volumn 119, Issue 3, 2011, Pages 182-185

  Buchbinder, S ^a   Zorn, M ^a   Bierhaus, A ^a   Nawroth, P P ^a   Muller M ^a   Schilling, T ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

HNF 1 ; MODY; mutation

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1ALPHA;

ADULT; AGED; ARTICLE; BODY MASS; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DIMERIZATION; DISEASE COURSE; DISEASE DURATION; DNA POLYMORPHISM; FAMILY STUDY; GENETIC ASSOCIATION; HUMAN; MALE; MATURITY ONSET DIABETES MELLITUS; MATURITY ONSET DIABETES MELLITUS OF THE YOUNG; NONSENSE MUTATION; ONSET AGE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

ADULT; AGE OF ONSET; AGED; CODON, NONSENSE; DIABETES MELLITUS, TYPE 2; DNA; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HUMANS; KAPLAN-MEIER ESTIMATE; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79952103126     PISSN: 09477349     EISSN: 14393646     Source Type: Journal    
DOI: 10.1055/s-0030-1262816     Document Type: Article

References (22)

1. Alberti KG, Zimmet PZ. 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 1998 15 539-553 (Pubitemid 28319935)
2. Bellanne-Chantelot C, Carette C, Riveline JP, etal. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 2008 57 503-508
3. Chiu KC, Chuang LM, Ryu JM, etal. The I27L amino acid polymorphism of hepatic nuclear factor-1alpha is associated with insulin resistance. J Clin Endocrinol Metab 2000 85 2178-2183 (Pubitemid 32269241)
4. Chouard T, Blumenfeld M, Bach I, etal. A distal dimerization domain is essential for DNA-binding by the atypical HNF1 homeodomain. Nucleic Acids Res 1990 18 5853-5863
5. Elbein SC, Teng K, Yount P, etal. Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10. J Clin Endocrinol Metab 1998 83 2059-2065 (Pubitemid 28496337)
6. Ellard S. Hepatocyte nuclear factor 1 alpha (HNF-1α alpha) mutations in maturity-onset diabetes of the young. Hum Mutat 2000 16 377-385
7. Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 2006 27 854-869 (Pubitemid 44336935)
8. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001 345 971-980
9. Frayling TM, Evans JC, Bulman MP, etal. beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 2001 50 Suppl.1 S94-S100 (Pubitemid 32148228)
10. Harries LW, Ellard S, Stride A, etal. 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 2216-2224 (Pubitemid 43985513)
11. Isomaa B, Henricsson M, Lehto M, etal. Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 1998 41 467-473 (Pubitemid 28157419)
12. Klupa T, Warram JH, Antonellis A, etal. Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1αalpha mutations: evidence for parent-of-origin effect. Diabetes Care 2002 25 2292-2301
13. Lehto M, Tuomi T, Mahtani MM, etal. Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect. J Clin Invest 1997 99 582-591 (Pubitemid 27097657)
14. Luco RF, Maestro MA, del Pozo N, etal. A conditional model reveals that induction of hepatocyte nuclear factor-1alpha in Hnf1alpha-null mutant beta-cells can activate silenced genes postnatally, whereas overexpression is deleterious. Diabetes 2006 55 2202-2211 (Pubitemid 44743616)
15. Owen K, Hattersley AT. Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab 2001 15 309-323 (Pubitemid 32916264)
16. Shih DQ, Screenan S, Munoz KN, etal. Loss of HNF-1αalpha function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism. Diabetes 2001 50 2472-2480 (Pubitemid 33642764)
17. Stride A, Shepherd M, Frayling TM, etal. Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1αalpha gene mutation carriers. Diabetes Care 2002 25 2287-2291 (Pubitemid 41071042)
18. 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-1alpha mutation. Diabetes Care 2000 23 424-425 (Pubitemid 30131760)
19. The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 1997 20 1183-1197
20. Tomei L, Cortese R, De Francesco R. A POU-A related region dictates DNA binding specificity of LFB1/HNF1 by orienting the 2 XL-homeodomains in the dimer. EMBO J 1992 11 4119-4129
21. Urhammer SA, Rasmussen SK, Kaisaki PJ, etal. Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM. Diabetologia 1997 40 473-475 (Pubitemid 27132619)
22. Yamagata K, Oda N, Kaisaki PJ, etal. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996 384 455-458 (Pubitemid 26414660)