HNF1B deletions in patients with young-onset diabetes but no known renal disease.
Author
Edghill, E. L.
Stals, K.
Oram, Richard A.
Shepherd, Maggie
Hattersley, Andrew T.
Ellard, Sian
Date
2013-01Journal
Diabetic medicine : a journal of the British Diabetic AssociationType
Research Support, N.I.H., ExtramuralPublisher
WileyDOI
10.1111/j.1464-5491.2012.03709.xRights
Archived with thanks to Diabetic medicine : a journal of the British Diabetic AssociationMetadata
Show full item recordAbstract
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.