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GENATLAS PHENOTYPE
last update : 31-03-2010
Symbol DEL17P131
Location 17p13.1
Name chromosome 17p13.1 microdeletion
Corresponding gene TP53 , GABARAP
Main clinical features
  • 17p13.1 CNVs are associated with distinct phenotypes depending on the position of the breakpoint with respect to TP53. DD patients have larger deletions, which encompass but do not disrupt TP53, whereas cancer-affected patients harbor CNVs with at least one breakpoint within TP53. (PMID: 21056402))
    • Genetic determination chromosomal
    Prevalence 7 patients (2010); del17p13.1 in 3 out of 300 (1%) mentally impaired Brazilian patients
    Function/system disorder neoplasia
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   all deletions are of different size and do not share common breakpoints
    Remark(s) 4 differently sized deletions in 17p13.1 encompassing the 3 tumor suppressor genes KCTD11, DLG4, and GPS2, in addition to the GABARAP gene, and TP53 in 2 of these patients (Krepischi-Santos 2009); 6 out of 7 deletions include P53 (Schluth-Bolard 2010)