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Articles by J. Stanik
Total Records ( 1 ) for J. Stanik
  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.
Methods 
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.
Results 
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.
Conclusions 
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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