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Articles by R. Murphy
Total Records ( 2 ) for R. Murphy
  R. Murphy , D.M. Turnbull , M. Walkers and A.T. Hattersley
  Maternally inherited diabetes and deafness (MIDD) affects up to 1% of patients with diabetes but is often unrecognized by physicians. It is important to make an accurate genetic diagnosis, as there are implications for clinical investigation, diagnosis, management and genetic counselling. This review summarizes the range of clinical phenotypes associated with MIDD; outlines the advances in genetic diagnosis and pathogenesis of MIDD; summarizes the published prevalence data and provides guidance on the clinical management of these patients and their families.
  A. Wirsing , K. A. Johnstone , L. W. Harries , S. Ellard , G. U. Ryffel , J. Stanik , D. Gasperikova , I. Klimes and R. Murphy
  Aims  Mutations in HNF4A cause a form of monogenic β-cell diabetes. We aimed to identify mutations in the pancreas-specific P2 promoter of HNF4A in families with suspected HNF4A diabetes and to show that they impaired the function of the promoter in vitro.
We screened families with a clinical suspicion of HNF4A monogenic β-cell diabetes for mutations in the HNF4A P2 promoter. We investigated the function of the previously reported HNF4A P2 promoter mutation −192C>G linked to late-onset diabetes in several families, along with two new segregating mutations, in vitro using a modified luciferase reporter assay system with enhanced sensitivity.
We identified two novel HNF4A P2 promoter mutations that co-segregate with diabetes in two families, −136A>G and −169C>T. Both families displayed phenotypes typical of HNF4A monogenic β-cell diabetes, including at least two affected generations, good response to sulphonylurea treatment and increased birthweight and/or neonatal hypoglycaemia. We show that both of these novel mutations and −192C>G impair the function of the promoter in transient transfection assays.
Two novel mutations identified here and the previously identified late-onset diabetes mutation, −192C>G, impair the function of the HNF4A P2 promoter in vitro.
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