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GENATLAS PHENOTYPE
last update : 07-06-2023
Symbol CLN3
Location 16p11.2
Name ceroid lipofuscinosis, neuronal, 3
Other name(s)
  • Batten disease
  • Spielmeyer-Vogt-Sjögren disease
  • ceroid-lipofuscinosis, neuronal 3, juvenile
    • Corresponding gene CLN3
    related resource Neuronal Ceroid Lipofuscinoses
    Neuronal Ceroid Lipofuscinoses
    Other symbol(s) CLJ, JNCL
    Main clinical features
  • progressive neurodegenerative disease with an onset between 5 and 10 years
  • characterized by retinitis pigmentosa and a rapid loss of vision with macular and peripheral retinal degeneration, cognitive and motor dysfunction, seizures in childhood, a fatal outcome within a decade, and a characteristic fingerprint profile inclusions in different cells
    • Genetic determination autosomal recessive
    Prevalence 1/12500
    Related entries including the variant form with granular osmiophilic deposits (GROD)
    Function/system disorder metabolism/lysosomal
    eye
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein leading to truncated protein and defective intracellular transport of the protein (affecting how intracellular levels of arginine are regulated or distributed throughout the cell)
    deletion     genomic deletion of 1.02kb in 85 p100 of the disease alleles, resulting in a frameshift mutation predicted to leave the first 153 amino acids of the CLN3 protein intact, followed by the addition of 28 novel amino acids
    Remark(s)
  • common mutant CLN3 protein does indeed retain significant function and juvenile form is a mutation-specific disease phenotype
  • mutation associated to disturbances in mitochondrial, cytoskeletal, and synaptic compartments
  • palmitoyl-protein desaturation defines a new mechanism of proteolipid modification, and that deficiency of this process leads to the signs and symptoms of Batten's disease
  • dysregulation of fodrin cytoskeleton and non-pumping functions of ATP1B1 may play a role in the neuronal degeneration in CLN3 (PMID: 18621045))
    • Genotype/Phenotype correlations
  • genomic deletion of 1.02kb homozygosity leading to severe form with early death
  • genomic deletion and a non-sens mutation leading to severe form
  • genomic deletion with a missense mutation leading to milder form