The transcription factor hepatocyte nuclear factor HNF1B (TCF2) is expressed from the earliest stages of development of the Wolffian duct, the mesonephros and metanephros, and the Mullerian ducts in the mouse.

Pathology

 germline mutation in

• MODY type V (MODY5) (MIM.604284)
  • MODY5 (MIM.604284) with mullerian aplasia (vaginal aplasia and rudimentary uterus) (MIM.158330)
  • MODY5 (MIM.604284) with nephron agenesis

• noninsulin-dependent type II diabetes (MIM.125853)
• neonatal paucity of intrahepatic bile ducts (neonatal biliary ductopenia) (17307554)

• fetal renal anomalies (17267738, 16971658)
  • familial hypoplastic glomerulocystic kidney disease (MIM.137920)
  • renal hypodysplasia (16971658)
  • association cystic kidneys and genital tract malformations (11918730, 11317673)
    • uterus bicornuate (uterus didelphys) (11918730, 11317673)
    • hypospadias (11918730)

 TCF2 inactivation in tumors

• germline and somatic biallelic TCF2 (HNF1beta) inactivation in
  • chromophobe renal cell carcinoma (15649945)
• epigenetic inactivation of TCF2 in ovarian cancer (16479257)

See also

 pathology of transcription factors

• pathology of TCFs

TCFs

TCF1

TCF2

TCF3

References

 Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007 Nov;81(5):1057-69. PMID: 17924346

 Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanne-Chantelot C. Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys. J Am Soc Nephrol. 2007 Mar;18(3):923-33. PMID: 17267738

 Beckers D, Bellanne-Chantelot C, Maes M. Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta). J Pediatr. 2007 Mar;150(3):313-4. PMID: 17307554

 Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanne-Chantelot C. Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys. J Am Soc Nephrol. 2007 Mar;18(3):923-33. PMID: 17267738

 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. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006 Oct;17(10):2864-70. PMID: 16971658

 Woolf AS. Renal hypoplasia and dysplasia: starting to put the puzzle together. J Am Soc Nephrol. 2006 Oct;17(10):2647-9. PMID: 16959822

 Lebrun G, Vasiliu V, Bellanne-Chantelot C, Bensman A, Ulinski T, Chretien Y, Grunfeld JP. Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations. Nat Clin Pract Nephrol. 2005 Dec;1(2):115-9. PMID: 16932376

 Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet. 2006 Aug 1;15(15):2363-75. PMID: 16801329

 Woolf AS. Unilateral multicystic dysplastic kidney. Kidney Int. 2006 Jan;69(1):190-3. PMID: 16374443

 Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschenes G, Bouissou F, Bensman A, Bellanne-Chantelot C. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol. 2006 Feb;17(2):497-503. PMID: 16371430

 Haumaitre C, Barbacci E, Jenny M, Ott MO, Gradwohl G, Cereghini S. Lack of TCF2/vHNF1 in mice leads to pancreas agenesis. Proc Natl Acad Sci U S A. 2005 Feb 1;102(5):1490-5. PMID: 15668393

 Rebouissou S, Vasiliu V, Thomas C, Bellanne-Chantelot C, Bui H, Chretien Y, Timsit J, Rosty C, Laurent-Puig P, Chauveau D, Zucman-Rossi J. Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. Hum Mol Genet. 2005 Mar 1;14(5):603-14. PMID: 15649945

 Bingham C, Hattersley AT. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. Nephrol Dial Transplant. 2004 Nov;19(11):2703-8. PMID: 15496559

 Fischer E, Gresh L, Reimann A, Pontoglio M. Cystic kidney diseases: learning from animal models. Nephrol Dial Transplant. 2004 Nov;19(11):2700-2. PMID: 15496558

 Wu G, Bohn S, Ryffel GU. The HNF1beta transcription factor has several domains involved in nephrogenesis and partially rescues Pax8/lim1-induced kidney malformations. Eur J Biochem. 2004 Sep;271(18):3715-28. PMID: 15355349