Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1β/maturity-onset diabetes of the young type 5 gene

Metabolism: Clinical and Experimental

Volumn 57, Issue 3, 2008, Pages 416-420

  Mayer, Christof ^a   Böttcher, Yvonne ^a   Kovacs, Peter ^b   Halbritter, Jan ^a   Stumvoll, Michael ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b UNIVERSITY HOSPITAL LEIPZIG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA;

ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DNA POLYMORPHISM; GLUCOSE TOLERANCE TEST; HUMAN; MALE; MATURITY ONSET DIABETES MELLITUS; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; BIRTH WEIGHT; C-PEPTIDE; DIABETES MELLITUS, TYPE 2; DNA; EXONS; GLUCOSE TOLERANCE TEST; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; INFANT, LOW BIRTH WEIGHT; INFANT, NEWBORN; INSULIN; KIDNEY; KIDNEY FAILURE, CHRONIC; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PATERNITY; PEDIGREE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 38749110087     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.metabol.2007.11.001     Document Type: Article

References (25)

1. Fajans S.S., Bell G.I., and Polonsky K.S. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345 (2001) 971-980
2. Horikawa Y., Iwasaki N., Hara M., Furuta H., Hinokio Y., Cockburn B.N., et al. Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY. Nat Genet 17 (1997) 384-385
3. Barbacci E., Chalkiadaki A., Masdeu C., Haumaitre C., Lokmane L., Loirat C., et al. HNF1β/TCF2 mutations impair transactivation potential through altered co-regulator recruitment. Hum Mol Genet 13 (2004) 3139-3149
4. Nishigori H., Yamada S., Kohama T., Tomura H., Sho K., Horikawa Y., et al. Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1β gene associated with diabetes and renal dysfunction. Diabetes 47 (1998) 1354-1355
5. Lindner T.H., Njolstadt P.R., Horikawa Y., Bostad L., Bell G.I., and Sovik O. 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 (1999) 2001-2008
6. Bellanne-Chantelot C., Chauveau D., Gautier J.F., Dubois-Laforgue D., Clauin S., Beaufils S., et al. Clinical spectrum associated with hepatocyte nuclear factor-1β mutations. Ann Intern Med 140 (2004) 510-517
7. Bellanne-Chantelot C., Clauin S., Chauvenau D., Collin P., Daumont M., Douillard C., et al. 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 (2005) 3126-3131
8. Iwasaki N., Okabe I., Momoi M.Y., Ohashi H., Ogata M., and Iwamotob Y. Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. Diabetologia 44 (2001) 387-388
9. Kolatsi-Joannou M., Bingham C., Ellard S., Bulmann M.P., Allen L.I., Hattersley A.T., 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 12 (2001) 2175-2180
10. Carbone I., Cotellessa M., Barella C., Minetti C., Ghiggeri G.M., Caridi G., et al. A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes. Diabetologia 45 (2002) 153-154
11. Furuta H., Furuta M., Sanke T., Ekawa K., Hanabusa T., Nishi M., et al. Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. J Clin Endocrinol Metab 87 (2002) 3859-3863
12. Montoli A., Colussi G., Massa O., Caccia R., Rizzoni G., Civati G., et al. Renal cysts and diabetes sindrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement. Am J Kidney Dis 40 (2002) 397-402
13. Waller S.C., Rees L., Woolf A.S., Ellard S., Pearson E.R., Hattersley A.T., et al. Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene. Am J Kidney Dis 40 (2002) 1325-1330
14. Ulinski T., Lescure S., Beaufils S., Guigonis V., Decramer S., Morin D., et al. Renal phenotypes related to hepatocyte nuclear factor-1β (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 17 (2006) 497-503
15. Decramer S., Parant O., Beaufils S., Clauin S., Guillou C., Kessler S., et al. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol 8 (2007) 923-933
16. Bingham C., Ellard S., Allen L., Bulman M., Shepherd M., Frayling T., et al. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β. Kidney Int 57 (2000) 989-997
17. Mache C.J., Preisegger K., Kopp S., Ratschek M., and Ring E. De-novo HNF-1β gene mutation in familial hypoplastic glomerulocystic kidney disease. Pediatr Nephrol 17 (2002) 1021-1026
18. Bingham C., Bulman M.P., Ellard S., Allen L.I., Lipkin G.W., van't Hoff W.G., et al. Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68 (2001) 219-224
19. Bingham C., Ellard S., van't Hoff W.G., Simmonds A., Marinaki A.M., Badman M.K., et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation. Kidney Int 63 (2003) 1645-1651
20. Pearson E.R., Badman M.K., Lockwood C.R., Clark P.M., Ellard S., Bingham C., et al. Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1α and -1β mutations. Diabetes Care 27 (2004) 1102-1107
21. Brackenridge A., Pearson ER Shojaee-Moradie F., Hattersley A.T., Russel-Jones D., and Umpleby A.M. Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor-1β and -1α mutations. Diabetes 55 (2006) 405-411
22. Yorifuji T., Kurokawa K., Mamada M., Imai T., Kawai M., Nishi Y., et al. 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 (2004) 2905-2908
23. Hattersley A.T., and Tooke J.E. The fetal insulin hypothesis: an alternative explanation of the association of low birthweight with diabetes and vascular disease. Lancet 353 (1999) 1789-1792
24. Edghill E.L., Bingham C., Ellard S., and Hattersley A.T. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 43 (2006) 84-90
25. Edghill E.L., Bingham C., Slingerland S., Minton J.A.L., Noordam C., Ellard S., et al. Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1β in human pancreatic development. Diabet Med 23 (2006) 1301-1306