Mutations in hepatocyte nuclear factor 1β (HNF1B) are the most common monogenic cause of developmental kidney disease. Affected patients commonly present with renal cysts; however, this condition is characterized by its diversity of renal and extra-renal phenotypes. Here, the authors analyse the clinical phenotypes, the spectrum of causative heterozygous HNF1B mutations, discuss the molecular pathways by which HNF1B might contribute to renal pathologies, and identify areas for future molecular, genetic and clinical research in HNF1B-associated disease.
- Rhian L. Clissold
- Alexander J. Hamilton
- Coralie Bingham
