HNF1B deletions in patients with young-onset diabetes but no known renal disease.

Diabetic Medicine : a Journal of the British Diabetic Association
Emma L EdghillS Ellard

Abstract

Hepatocyte nuclear factor 1β (HNF1B) mutations cause a syndrome of renal cysts and diabetes, with whole gene deletions accounting for approximately 50% of cases. The severity of the renal phenotype is variable, from enlarged cystic kidneys incompatible with life to normal renal development and function. We investigated the prevalence of HNF1B deletions in patients with diabetes but no known renal disease. We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteria for maturity-onset diabetes of the young (two generations affected and at least one family member diagnosed under 25 years). A fluorescent polymerase chain reaction assay was used to analyse two intragenic polymorphic HNF1B markers and identify heterozygous patients who therefore did not have whole gene deletions. Those patients homozygous for both markers were then tested for an HNF1B deletion using multiplex ligation-dependent probe amplification. Heterozygous HNF1B intragenic polymorphisms were identified in 337/461 subjects. Multiplex ligation-dependent probe amplification analysis showed an HNF1B gene deletion in three of the remaining 124 probands, all of whom met the criteria for maturity-onset diabe...Continue Reading

References

Apr 8, 2004·Annals of Internal Medicine·Christine Bellanné-ChantelotJosé Timsit
Oct 22, 2004·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Coralie Bingham, Andrew T Hattersley
Sep 15, 2006·Journal of the American Society of Nephrology : JASN·Stefanie WeberRemi Salomon
Oct 10, 2007·American Journal of Human Genetics·Heather C MeffordChristine Bellanne-Chantelot
Nov 1, 2007·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Emma L EdghillCoralie Bingham
Jul 23, 2008·Diabetic Medicine : a Journal of the British Diabetic Association·I S HaldorsenP R Njølstad
Apr 25, 2009·Journal of the American Society of Nephrology : JASN·Shazia AdalatDetlef Bockenhauer
Apr 10, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Laurence HeidetRémi Salomon

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Citations

Nov 6, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Richard W Naylor, Alan J Davidson
Apr 5, 2014·Diabetes Research and Clinical Practice·Petra DusatkovaJan Lebl
Feb 13, 2014·European Journal of Human Genetics : EJHG·Kevin ColcloughChristine Bellanné-Chantelot
Jul 15, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Detlef Bockenhauer, Graciana Jaureguiberry
May 15, 2013·The Journal of Molecular Diagnostics : JMD·Leslie R RoweSarah T South
Dec 24, 2014·Nature Reviews. Nephrology·Rhian L ClissoldCoralie Bingham
Jun 11, 2016·Diabetes·Jayne A L HoughtonSian Ellard
Apr 2, 2016·Endocrine Reviews·Yisheng Yang, Lawrence Chan
May 9, 2019·Archives of Endocrinology and Metabolism·Renata P DottoAndré F Reis
Oct 9, 2019·Molecular Genetics & Genomic Medicine·Lucas S de SantanaMilena G Teles
Jul 12, 2019·BMC Medicine·Xavier DonathUNKNOWN Monogenic Diabetes Study Group of the Société Francophone du Diabète
Sep 7, 2019·Nature Reviews. Disease Primers·Olivier DevuystAnthony J Bleyer
Sep 8, 2020·The Journal of Clinical Endocrinology and Metabolism·Huseyin DemirbilekElisa De Franco
Sep 29, 2020·AACE Clinical Case Reports·Carmen BustamanteSupamit Ukarapong
Feb 3, 2021·The Journal of Clinical Investigation·Haichen ZhangToni I Pollin

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