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.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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Orphanet article
Orphanet ID 122800
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74. |
NCBI article
NCBI 3784
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75. |
OMIM.ORG article
Omim 607542
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Update: 14. August 2020