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Pediatric Nephrology

, Volume 31, Issue 5, pp 707–714 | Cite as

HNF1B-associated clinical phenotypes: the kidney and beyond

  • Detlef Bockenhauer
  • Graciana Jaureguiberry
Review

Abstract

Mutations in HNF1B, the gene encoding hepatocyte nuclear factor 1β are the most commonly identified genetic cause of renal malformations. HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observations in pedigrees affected by MODY5. Since then, a whole spectrum of associated phenotypes have been reported, including genital malformations, autism, epilepsy, gout, hypomagnesaemia, primary hyperparathyroidism, liver and intestinal abnormalities and a rare form of kidney cancer. The most commonly identified mutation, in approximately 50 % of patients, is an entire gene deletion occurring in the context of a 17q12 chromosomal microdeletion that also includes several other genes. Some of the associated phenotypes, especially the neurologic ones, appear to occur only in the context of this microdeletion and thus may not be directly linked to HNF1B. Here we review the spectrum of associated phenotypes and discuss potential implications for clinical management.

Keywords

HNF1B TCF2 Renal dysplasia Cystic kidney Hypomagnesemia Gout Genital malformation Renal malformation Autism 

Notes

Acknowledgments

DB is a HEFCE Clinical Reader and supported by European Union, FP7 [grant agreement 2012–305608, “European Consortium for High-Throughput Research in Rare Kidney Diseases (EURenOmics)”]

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Copyright information

© IPNA 2015

Authors and Affiliations

  1. 1.UCL Institute of Child HealthLondonUK
  2. 2.Great Ormond Street Hospital for Children NHS Foundation TrustLondonUK

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