Mutations in hepatocyte nuclear factor-1β and their related phenotypes

Journal of Medical Genetics

Volumn 43, Issue 1, 2006, Pages 84-90

  Edghill, E L ^a   Bingham, C ^a   Ellard, S ^a   Hattersley, Andrew T ^a  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA;

ARTICLE; ATROPHY; DEVELOPMENTAL DISORDER; DIABETES MELLITUS; FAMILY HISTORY; GENE MUTATION; GENE SEQUENCE; GENITAL MALFORMATION; GOUT; HETEROZYGOSITY; HUMAN; KIDNEY CYST; LIVER FUNCTION TEST; MAJOR CLINICAL STUDY; MATURITY ONSET DIABETES MELLITUS; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; UTERUS MALFORMATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EXONS; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; INFANT; KIDNEY DISEASES; MUTATION; PEDIGREE; PHENOTYPE;

EID: 30744476739     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.032854     Document Type: Article

References (38)

1. Barbacci E, Reber M, Ott M-O, C Breillat, F Huetz, S Cereghini. Variant hepatocyte nuclear factor1 is required for visceral endoderm specification. Development 1999;126:4795-805.
2. Coffinier C, Thepot D, Babinet C, Yarniv M, Barra J. Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation. Development 1999;126(21):4785-94.
3. Coffinier C, Barra J, Babinet C, Yaniv M. Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis. Mech Dev 1999;89(1-2):211-3.
4. Reber M, Cereghini S. Variant hepatocyte nuclear factor 1 expression in the mouse genital tract. Med Dev 2001;100(1):75-8.
5. Rey-Campos J, Chouard T, Yaniv M, Cereghini S. vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. EMBO J 1991;10(6):1445-57.
6. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI. Mutation in hepatocyte nuclear factor-1b gene (TCF2) associated with MODY. Nat Genet 1997;17:384-5.
7. Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int 2000;57(3):898-907.
8. Bingham C, Bulman M, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT. Mutations in the HNF1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 2001;68:219-24.
9. Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT. Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int 2002;61(4):1243-51.
10. Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int 2003;63(5):1645-51.
11. Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S. The position of premature termination codons in the hepatocyte nuclear factor-1 beta gene determines susceptibility to nonsense-mediated decay. Hum Genet 2005 Aug 25:1-11 [Epub ahead of print].
12. Harries LW, Ellard S, Jones RW, Hattersley AT, Bingham C. Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. Diabetologia 2004;47(5):937-42.
13. Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LI, Hattersley AT, Woolf AS. 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(10):2175-80.
14. Waller SC, Rees L, Woolf AS, Ellard S, Pearson ER, Hattersley AT, Bingham C. 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(6):1325-30.
15. Bellanne-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noel LH, Velho G, Timsit J. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 2004;140(7):510-7.
16. Yorifuji T, Kurokawa K, Mamada M, Imai T, Kawai M, Nishi Y, Shishido S, Hasegawa Y, Nakahata T. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. J Clin Endocrinol Metab 2004;89(6):2905-8.
17. Furuta H, Furuta M, Sanke T, Ekawa K, Hanabusa T, Nishi M, Sasaki H, Nanjo K. 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 2002;87(8):3859-63.
18. Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, 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-1beta. Hum Mol Genet 1999;8(11):2001-8.
19. Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, Bell GI, Takeuchi T, Takeda J. Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1 beta gene associated with diabetes and renal dysfunction. Diabetes 1998;47(8):1354-5.
20. Iwasaki N, Okabe I, Momoi MY, Ohashi H, Ogata M, Iwamoto 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 2001;44(3):387-8.
21. Carbone I, Cotellessa M, Barella C, Minetti C, Ghiggeri GM, Caridi G, Perfumo F, Lorini R. A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes. Diabetologia 2002;45(1):153-4.
22. Yoshiuchi I, Yamagata K, Zhu Q, Tamada I, Takahashi Y, Onigata K, Takeda J, Miyagawa J, Matsuzawa Y. Identification of a gain-of-function mutation in the HNF-1 beta gene in a Japanese family with MODY. Diabetologia 2002;45(1):154-5.
23. Mache G, Preisegger KH, Kopp S, Ratschek M, Ring E. De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystic kidney disease. Pediatr Nephrol 2002;17(12):1021-6.
24. Montoli A, Colussi G, Massa O, Caccia R, Rizzoni G, Civati G, Barbetti F. Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement. Am J Kidney Dis 2002;40(2):397-402.
25. Kitanaka S, Miki Y, Hayashi Y, Igarashi T. Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations. J Clin Endocrinol Metab 2004;89(3):1369-78.
26. Shihara N, Horikawa Y, Onishi T, Ono M, Kashimada K, Takeda J. Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes. Diabetologia 2004;47(6):1128-9.
27. Barbacci E, Chalkiadaki A, Masdeu C, Haumaitre C, Lokmane L, Loirat C, Cloarec S, Talianidis I, Bellanne-Chantelot C, Cereghini S. HNF1{beta}/TCF2 mutations impair transactivation potential through altered co-regulator recruitment. Hum Mol Genet 2004;13(24):3139-49.
28. Wang C, Fang Q, Zhang R, Lin X, Xiang K. Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees. Acta Diabetol 2004;41(4):137-45.
29. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI. Mutations in the hepatocyte nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996;384:455-8.
30. Beards F, Frayling T, Bulman M, Horikawa Y, Allen L, Appleton M, Bell GI, Ellard S, Hattersley AT. Mutations in hepatocyte nuclear factor 1 beta are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 1998;47:1152-4.
31. Pearson ER, Badman MK, Lockwood CR, Clark PM, Ellard S, Bingham C, Hattersley AT. Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1 alpha and -1beta mutations. Diabetes Care 2004;27(5):1102-7.
32. Maestro MA, Boj SF, Luco RF, Pierreux CE, Cabedo J, Servitia JM, German MS, Rousseau GG, Lemaigre FP, Ferrer J. Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas. Hum Mol Genet 2003;12(24):3307-14.
33. Iwasaki N, Babazono T, Tomonaga O, Ogata M, Yokokawa H, Iwamoto Y. Mutations in the hepatocyte nuclear factor-1beta (MODY5) gene are not a major factor contributing to end-stage renal disease in Japanese people with diabetes mellitus. Diabetologia 2001;44(1):127-8.
34. Coffinier C, Gresh L, Fiette L, Tronche F, Schutz G, Babinet C, Pontoglio M, Yaniv M, Barra J. Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta. Development 2002;129(8):1829-38.
35. Wild W, Pogge von Strandmann E, Nastos A, Senkel S, Lingott-Frieg A, Bulman M, Bingham C, Ellard S, Hattersley AT, Ryffel GU. The mutated human gene encoding hepatocyte nuclear factor 1 beta inhibits kidney formation in developing Xenopus embryos. Proc Natl Acad Sci U S A 2000;97(9):4695-700.
36. Wang L, Coffinier C, Thomas MK, Gresh L, Eddu G, Manor T, Levitsky LL, Yaniv M, Rhoads DB. Selective deletion of the Hnf1beta (MODY5) gene in {beta}-cells leads to altered gene expression and defective insulin release. Endocrinology 2004;145(8):3941-9.
37. Tomura H, Nishigori H, Sho K, Yamagata K, Inoue I, Takeda J. Loss-of-function and dominant-negative mechanisms associated with hepatocyte nuclear factor-1 beta mutations in familial type 2 diabetes mellitus. J Biol Chem 1999;274(19):12975-8.
38. Thomas H, Senkel S, Erdmann S, Arndt T, Turan G, Klein-Hitpass L, Ryffel GU. Pattern of genes influenced by conditional expression of the transcription factors HNF6, HNF4alpha and HNF1beta in a pancreatic beta-cell line. Nucleic Acids Res 2004;32(19):e150.