Alternative name(s) :
Gene_locus : human-DPP6
Mutation : 1 mutation c-340C>T_human-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| Title : Detailed characterization of familial idiopathic ventricular fibrillation linked to the DPP6 locus - Ten_2016_Heart.Rhythm_13_905 |
| Author(s) : Ten Sande JN , Postema PG , Boekholdt SM , Tan HL , van der Heijden JF , de Groot NM , Volders PG , Zeppenfeld K , Boersma LV , Nannenberg EA , Christiaans I , Wilde AA |
| Ref : Heart Rhythm , 13 :905 , 2016 |
| Abstract : Ten_2016_Heart.Rhythm_13_905 |
| ESTHER : Ten_2016_Heart.Rhythm_13_905 |
| PubMedSearch : Ten_2016_Heart.Rhythm_13_905 |
| PubMedID: 26681609 |
| Title : Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6 - Postema_2011_Neth.Heart.J_19_290 |
| Author(s) : 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 |
| Abstract : Postema_2011_Neth.Heart.J_19_290 |
| ESTHER : Postema_2011_Neth.Heart.J_19_290 |
| PubMedSearch : Postema_2011_Neth.Heart.J_19_290 |
| PubMedID: 21512816 |
| Gene_locus related to this paper: human-DPP6 |
| Title : Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. - Alders_2009_Am.J.Hum.Genet_84_468 |
| Author(s) : Alders M , Koopmann TT , Christiaans I , Postema PG , Beekman L , Tanck MW , Zeppenfeld K , Loh P , Koch KT , Demolombe S , Mannens MM , Bezzina CR , Wilde AA |
| Ref : American Journal of Human Genetics , 84 :468 , 2009 |
| Abstract : Alders_2009_Am.J.Hum.Genet_84_468 |
| ESTHER : Alders_2009_Am.J.Hum.Genet_84_468 |
| PubMedSearch : Alders_2009_Am.J.Hum.Genet_84_468 |
| PubMedID: 19285295 |
| Gene_locus related to this paper: human-DPP6 |
| 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_2005_J.Physiol_565_751 |
| Author(s) : Radicke S , Cotella D , Graf EM , Ravens U , Wettwer E |
| Ref : Journal of Physiology , 565 :751 , 2005 |
| Abstract : Radicke_2005_J.Physiol_565_751 |
| ESTHER : Radicke_2005_J.Physiol_565_751 |
| PubMedSearch : Radicke_2005_J.Physiol_565_751 |
| PubMedID: 15890703 |
| Gene_locus related to this paper: human-DPP6 |