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GENATLAS PHENOTYPE
last update : 13/07/2006
Symbol JLNS1
Location 11p15.5
Name Jervell and Lange-Nielsen syndrome 1
Other name(s)
  • cardio-auditory syndrome of Jervell and Lange-Nielsen . surdo-cardiac syndrome
    • Corresponding gene KCNQ1
    related resource Long QT Syndrome Database
    Main clinical features
  • congenital neurosensory deafness, with a long QT, syncopal attacks and a high risk of sudden death
    • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    ear
    Type disease
    Gene product
    Name cardiac potassium channel (KCNQ1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   abnormal protein/loss of function mostly frameshift-truncating mutations leading to loss of function, also mutation of the C terminus resulting in a failure of subunit assembly
    Genotype/Phenotype correlations deletion/insertion mutations, nonsense mutations, frameshift mutations resulting in truncated protein