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GENATLAS PHENOTYPE
last update : 20-12-2018
Symbol PPKCA
Location 17q24.3
Name Andersen cardiodysrhythmic periodic paralysis
Other name(s)
  • long QT syndrome 7
  • Andersen -Tawil syndrome
    • Corresponding gene KCNJ2
    Other symbol(s) LQT7, ATS
    Main clinical features
  • characterized clinically by the triad of periodic paralysis, cardiac arrhythmia, and dysmorphic features, including clinodactyly, hypertelorism, micrognathia, low-set ears, a broad forehead and cleft plate
  • potassium-sensitive cardiac arrhythmias and periodic paralyses, dysmorphic features, skeletal developmental abnormalities, short stature, syndactyly, small mandible, hypoplastic kidney
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    neuromuscular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function V302M mutation specifically renders the channel unable to conduct potassium without altering subunit assembly or attenuating cell surface expression
    Remark(s)
  • C-terminal mutation blocks Golgi exit, identical to mutations in the N-terminal Golgi trafficking structure, suggesting that the export signal is formed by neighboring residues in the tertiary structure (PMID: 21703452))