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)
• familial hypoplastic glomerulocystic kidney disease (MIM.137920)
• association cystic kidneys and genital tract malformations (#11918730#, #11317673#)
• uterus bicornuate (uterus didelphys) (#11918730#, #11317673#)
• hypospadias (#11918730#)

 germline and somatic biallelic TCF2 (HNF1beta) inactivation in

• chromophobe renal cell carcinoma (#15649945#)

See also