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Disease Report for: Ventricular fibrillation, paroxysmal familial 2

Alternative name(s)|
Mutation|1 mutation:
OMIM: |126141, 612956

( 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

    Title: Detailed characterization of familial idiopathic ventricular fibrillation linked to the DPP6 locus
    Ten Sande JN, Postema PG, Boekholdt SM, Tan HL, van der Heijden JF, de Groot NM, Volders PG, Zeppenfeld K, Boersma LV and Wilde AA <2 more author(s)>
    Ref: Heart Rhythm, 13:905, 2016 : PubMed


    Title: Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6
    Postema PG, Christiaans I, Hofman N, Alders M, Koopmann TT, Bezzina CR, Loh P, Zeppenfeld K, Volders PG, Wilde AA
    Ref: Neth Heart J, 19:290, 2011 : PubMed


    Title: Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation.
    Alders M, Koopmann TT, Christiaans I, Postema PG, Beekman L, Tanck MW, Zeppenfeld K, Loh P, Koch KT and Wilde AA <3 more author(s)>
    Ref: American Journal of Human Genetics, 84:468, 2009 : PubMed


    Title: Expression and function of dipeptidyl-aminopeptidase-like protein 6 as a putative beta-subunit of human cardiac transient outward current encoded by Kv4.3
    Radicke S, Cotella D, Graf EM, Ravens U, Wettwer E
    Ref: Journal of Physiology, 565:751, 2005 : PubMed


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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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