Brief report: Exonic duplication of the hepatocyte nuclear factor-1β gene (Transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 7, 2007, Pages 2844-2847

  Carette, Claire ^a,e   Vaury, Christelle ^b   Barthélémy, Anne ^c   Clauin, Séverine ^b   Grünfeld, Jean Pierre ^d   Timsit, José ^a   Bellanné Chantelot, Christine ^b  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c Department of Pediatry   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e Université Pierre et Marie Curie Paris 6 ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA; TCF2 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CASE REPORT; CHRONIC KIDNEY FAILURE; DIABETES MELLITUS; EXON; GENE DUPLICATION; GOUT; HUMAN; MALE; MATURITY ONSET DIABETES MELLITUS; MORPHOLOGY; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; URIC ACID NEPHROPATHY; FAMILY HEALTH; FEMALE; GENETICS; MIDDLE AGED; NON INSULIN DEPENDENT DIABETES MELLITUS; PEDIGREE;

DIABETES MELLITUS, TYPE 2; EXONS; FAMILY HEALTH; FEMALE; GENE DUPLICATION; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE;

EID: 34447134182     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-0286     Document Type: Article

References (20)

1. 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 1997 Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY. Nat Genet 17:384-385
2. 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 2000 Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 β. Kidney Int 57:898-907
3. Kolatsi-Joannou M, Bingham C, Ellard S 2001 Hepatocyte nuclear factor-1β: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol 12:2175-2180
4. Bingham C, Hattersley A 2004 Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1β. Nephrol Dial Transplant 19:2703-2708
5. Edghill EL, Bingham C, Ellard S, Hattersley AT 2006 Mutations in hepatocyte nuclear factor-1β and their related phenotypes. J Med Genet 43:84-90
6. Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, Bell GI, Takeuchi T, Takeda J 1998 Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1β gene associated with diabetes and renal dysfunction. Diabetes 47:1354-1355
7. Montoli A, Colussi G, Massa O, Caccia R, Rizzoni G, Civati G, Barbetti F 2002 Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1β gene: description of a new family with associated liver involvement. Am J Kidney Dis 40:397-402
8. Bingham C, Bulman M, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT 2001 Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68:219-224
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 AH 2002 Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1β mutations. Kidney Int 61:1243-1251
10. Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O 1999 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 8:2001-2008
11. Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschênes G, Bouissou F, Bensman A, Bellanne-Chantelot C 2006 Renal phenotypes related to hepatocyte nuclear factor-1β mutations in a pediatric cohort. J Am Soc Nephrol 17:497-503
12. Bellanne-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noel LH, Velho G, Timsit J 2004 Clinical spectrum associated with hepatocyte nuclear factor-1β mutations. Ann Intern Med 140:510-517
13. Bellanne-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, Laloi-Michelin M, Jacquesson L, Larger E, Louis J, Nicolino M, Subra JF, Wilhem JM, Young J, Velho G, Timsit J 2005 Large genomic rearrangements in the hepatocyte nuclear factor-1β (TCF2) gene are the most frequent cause of MODY5. Diabetes 54:3126-3132
14. Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S 2006 Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF-1β mutations. Hum Mol Genet 15:2363-2375
15. 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 2003 Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation. Kidney Int 63:1645-1651
16. Coffinier C, Barra J, Babinet C, Yaniv M 1999 Expression of the vHNF1/HNF1β homeoprotein gene during mouse organogenesis. Mech Dev 89:211-213
17. Harries LW, Ellard S, Jones RWA, Hattersley AT, Bingham C 2004 Abnormal splicing of hepatocyte nuclear factor-1 β in the renal cysts and diabetes syndrome. Diabetologia 47:937-942
18. Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM 2005 Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet 77:966-987
19. Weber S, Moriniere V, Knuppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiene A, Mir S, Montini G, Peco-Antic A, Wuhl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R 2006 Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol 17:2864-2870
20. Pearson ER, Badman MK, Lockwood CR, Clark PM, Ellard S, Bingham C, Hattersley AT 2004 Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1α and -1β mutations. Diabetes Care 27:1102-1107