Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.
- Ellard, Sian
- Thomas, K.
- Edghill, E. L.
- Owens, M.
- Ambye, L.
- Cropper, J.
- Little, J.
- Strachan, M.
- Stride, A.
- Ersoy, B.
- Eiberg, H.
- Pedersen, O.
- Shepherd, Maggie
- Hansen, T.
- Harries, L. W.
- Hattersley, Andrew T.
DOIAbstract
Heterozygous mutations of glucokinase (GCK) and hepatocyte nuclear factor-1 alpha (HNF1A; also known as hepatic transcription factor 1 [TCF1]) genes are the most common cause of MODY. Genomic deletions of the HNF1B (also known as TCF2) gene have recently been shown to account for one third of mutations causing renal cysts and diabetes syndrome. We investigated the prevalence of partial and whole gene deletions in UK patients meeting clinical criteria for GCK or HNF-1alpha/-4alpha MODY and in whom no mutation had been identified by sequence analysis.This article is freely available via Open Access. Click on the ‘Additional Link’ above to access the full-text from the publisher’s site
Add to ORKG