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Disease Report for: Ventricular fibrillation, paroxysmal familial 2

Name Class
Ventricular fibrillation, paroxysmal familial 2Gene_locushuman-DPP6
Comment( From OMIM)In 3 related families from the Netherlands and an additional 7 of 42 probands with idiopathic ventricular fibrillation (VF2; 612956) from the Netherlands, Alders et al. (2009) identified a C-to-T transition 340 bases upstream from the ATG start site of the DPP6 gene (rs3807218). All 10 probands carried the same haplotype. The mutation was not present in a control group of 350 Dutch individuals of European descent. The mutation is associated with 20-fold increased expression in DPP6 mRNA levels in the myocardium of carriers as compared to controls
OMIM126141
612956
Mutationc-340C>T_human-DPP6
PaperAlders_2009_Am.J.Hum.Genet_84_468
Radicke_2005_J.Physiol_565_751
Postema_2011_Neth.Heart.J_19_290
Ten_2016_Heart.Rhythm_13_905

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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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