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GENATLAS PHENOTYPE
last update : 18/06/2008
Symbol HDL2
Location 16q24.3
Name Huntington disease -like 2
Corresponding gene JPH3
Main clinical features
  • onset in the third or fourth decade, unvoluntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, dementia, sometimes associated to acanthocytosis, and relentless course with death about 20 years after disease onset
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    hematology
    Type disease
    Gene product
    Name junctophilin 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion   unknown CTG/CAG repeat expansion of 41-58 triplets, non coding
    Remark(s)
  • a JPH3 splice variant with the CTG repeat in 3' untranslated region suggested that transcripts containing an expanded CUG repeat could play a role in the pathogenesis of HDL2 (Rudnicki 2007)
    • Genotype/Phenotype correlations no apparent correlation between the phenotype, the size of the triplet expansion and the presence of acanthocytosis