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GENATLAS PHENOTYPE
last update : 27/07/2006
Symbol MNST
Location 9p21.3
Name melanoma-neural system tumor syndrome
Other name(s) melanoma-astrocytoma syndrome
Corresponding gene CDKN2A , CDKN2B
Main clinical features
  • malignant melanoma and astrocytoma, the brain tumor followed the diagnosis of melanoma by a period of 2 and 10 years, respectively, and are the primary cause of morbidity and mortality
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type malignancy
    Gene product
    Name . CDKN2A . CDKN2B
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   absent protein contiguous loss of CDKN2A and CDKN2B, a germline deletion of the p14ARF specific exon 1beta of CDKN2A
    Remark(s) contiguous gene syndrome with concomittent loss of CDKN2A and CDKN2B