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GENATLAS PHENOTYPE
last update : 27-02-2009
Symbol ATFB10
Location 5p13
Name atrial fibrillation, familial, 10
Corresponding gene NUP155
Other symbol(s) arAF1
Main clinical features
  • early onset at the fetal stage and is associated with neonatal sudden death and, in some cases, ventricular tachyarrhythmias and waxing and waning cardiomyopathy (Oberti 2004)
  • cardiac disorder characterized by supraventricular tachyarrhythmia due to uncoordinated atrial activation, a rapid atrial rate of 150–300 beats/min, absence of P waves, presence of rapid oscillations or fibrillatory waves (f waves), and inconsistent R-R intervals on electrocardiograms (ECG)
    • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    Type susceptibility factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function causes atrial fibrillation by altering mRNA and protein transport and link the nuclear pore complex to cardiovascular disease(Zhang 2008)
    Remark(s)