Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Spannungsabhängiger Kaliumkanal Unterfamilie KQT Member 1

Das KCNQ1-Gen kodiert einen spannungsabhängigen Kaliumkanal der an der Rezleitung des Herzens beteiligt ist. Mutationen führen zur autosomal dominanten Herzrhythmusstörungen wie Long-QT-Syndrom 1 und Short-QT-Syndrom 2, Jervell und Lange-Nielsen-Syndrom und familiäres Vorhofflimmern 3. Da das Gen unterschiedliches väterliches und mütterliches Imprintig aufweist variiert die Klinik entsprechend der mütterlichen oder väterlichen Vererbung der Mutation.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Long-QT-Syndrom 01
KCNQ1
Short-QT-Syndrom 2
KCNQ1

Referenzen:

1.

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2.

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3.

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4.

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5.

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6.

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8.

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9.

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10.

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11.

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12.

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13.

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14.

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15.

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23.

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32.

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33.

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34.

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35.

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36.

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37.

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38.

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39.

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40.

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41.

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42.

Casimiro MC et. al. (2001) Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.

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43.

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44.

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45.

Marx SO et. al. (2002) Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel.

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46.

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47.

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48.

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49.

Mancini-DiNardo D et. al. (2003) A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencer.

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50.

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51.

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52.

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53.

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54.

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55.

Aizawa Y et. al. (2004) Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect.

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56.

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57.

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58.

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59.

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60.

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61.

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62.

Suh BC et. al. (2006) Rapid chemically induced changes of PtdIns(4,5)P2 gate KCNQ ion channels.

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63.

Imboden M et. al. (2006) Female predominance and transmission distortion in the long-QT syndrome.

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64.

Ocorr K et. al. (2007) KCNQ potassium channel mutations cause cardiac arrhythmias in Drosophila that mimic the effects of aging.

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65.

Johnson JN et. al. (2008) Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

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66.

Arbour L et. al. (2008) A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

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67.

Das S et. al. (2009) Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation.

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68.

Roepke TK et. al. (2009) Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis.

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69.

Moretti A et. al. (2010) Patient-specific induced pluripotent stem-cell models for long-QT syndrome.

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70.

Bartos DC et. al. (2013) A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.

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71.

Guerrier K et. al. (2013) Long QT genetics manifesting as atrial fibrillation.

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72.

Hasegawa K et. al. (2014) A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels.

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