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GENATLAS PHENOTYPE
last update : 31-01-2014
Symbol ATM
Location 11q22.3
Name ataxia-telangiectasia
Other name(s) Louis-Bar syndrome
Corresponding gene ATM
related resource Ataxia-Telangiectasia
Other symbol(s) AT
Main clinical features
  • cerebellar ataxia, cutaneous telangiectasias, immune deficiency, sensitivity to ionizing radiation and radiomimetic drugs.
  • perifoveal telangiectasia
  • increased risk of leukemia and epithelial tumors
  • various symptoms (alpha foetoprotein augmentation) diabetes, growth retardation and premature ageing, chromosomal instability (translocation deletion particularly in TCR and immunoglobin subunits (K-H-L)), including complementation groups A, B, C and D, breast cancer susceptibility in heterozygotes
    • Genetic determination
    Function/system disorder defense and immunity
    neurology
    Type chromosomal instability syndrome
    Gene product
    Name ATM
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein deletion of 4 nucleotides in intron 20 leading to aberrant inclusion of a crpytic exon of 65 bp
    nonsense   truncated protein  
    Remark(s) . R3047X mutation generates an ataxia phenotype in A-T patients but retains normal activation in response to DNA damage, suggesting that most of the clinical manifestations of A-T may result from an inability to effectively regulate ROS, an observation that has important consequences for A-T treatment strategies (PMID: 20966255))
  • ATM deficiency results in accumulation of DNA-topoisomerase I covalent intermediates in neural cells (PMID: 23626666))
    • Genotype/Phenotype correlations good candidate for aminoglycoside treatment