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GENATLAS PHENOTYPE
last update : 28-03-2017
Symbol SCOTS
Location 12q12
Name Scott syndrome
Corresponding gene ANO6
Main clinical features
  • results from a defect in phospholipid scrambling activity
  • mild bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells
  • platelets and other blood cells from patients show a defect in their ability to expose PtdSer in response to a Ca2+ ionophore, with a defect in the Ca2+-dependent phospholipid scrambling in the platelets, as well as erythrocytes and B lymphocyte cell lines
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s)
  • mutation at a splice-acceptor site of the gene encoding ANO6, causing the premature termination of the protein, a mutation in the splice acceptor site caused exon 13 to be skipped (PMID: 21107324))