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HNF1B-associated clinical phenotypes: the kidney and beyond.

Bockenhauer, D; Jaureguiberry, G; (2015) HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatric Nephrology 10.1007/s00467-015-3142-2.

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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.

Type: Article
Title: HNF1B-associated clinical phenotypes: the kidney and beyond.
DOI: 10.1007/s00467-015-3142-2
Publisher version: http://dx.doi.org/10.1007/s00467-015-3142-2
Language: English
Keywords: Autism, Cystic kidney, Genital malformation, Gout, HNF1B, Hypomagnesemia, Renal dysplasia, Renal malformation, TCF2
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1471900
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