title: HNF1B-associated clinical phenotypes: the kidney and beyond.
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.
authors.affiliation: UCL Institute of Child Health, 30 Guilford Street, London, WC1N 3EH, UK. d.bockenhauer@ucl.ac.uk.|Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. d.bockenhauer@ucl.ac.uk.
authors.forename: Detlef
authors.initials: D
authors.lastname: Bockenhauer
authors.affiliation: UCL Institute of Child Health, 30 Guilford Street, London, WC1N 3EH, UK.
authors.forename: Graciana
authors.initials: G
authors.lastname: Jaureguiberry
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D008822:Mice, Transgenic; D009154:Mutation; D010641:Phenotype; D011379:Prognosis; D014564:Urogenital Abnormalities / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: C496495:HNF1B protein, human; C496496:Hnf1b protein, mouse; D051539:Hepatocyte Nuclear Factor 1-beta
keywords: Autism; Cystic kidney; Genital malformation; Gout; HNF1B; Hypomagnesemia; Renal dysplasia; Renal malformation; TCF2