HNF1B deletions in patients with young-onset diabetes but no known renal disease.
Edghill, E. L.
Oram, Richard A.
Hattersley, Andrew T.
JournalDiabetic medicine : a journal of the British Diabetic Association
TypeResearch Support, N.I.H., Extramural
RightsArchived with thanks to Diabetic medicine : a journal of the British Diabetic Association
MetadataShow full item record
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.