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GENATLAS PHENOTYPE
last update : 30-05-2009
Symbol LEOPS
Location 12q24.13
Name Leopard syndrome
Other name(s)
  • lentiginosis, cardiomyopathic
  • multiple lentigines syndrome
    • Corresponding gene PTPN11
    Other symbol(s) ML
    Main clinical features
  • electrocardiographic conduction abonormalities, multiple lentigines syndrome, ocular hypertelorism, pulmonary stenosis, aneurysms, abonormal genitalia, growth retardation, skeletal abnormalities, neurosensory deafness and mental retardation
    • Genetic determination autosomal dominant
    Related entries . overlapping with Noonan syndrome and allelic to this syndrome at least in some instances
    Function/system disorder congenital malformation
    dermatology
    Type malformation
    Gene product
    Name protein tyrosine phosphatase non receptor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutations (T468M) in exon 12 in most cases, Y279C and T468M causing loss of SHP-2 catalytic activity
    Remark(s) dysregulated phosphatase activity of PTPN11, even at low level, is sufficient to cause the overlapping clinical features of LEOPS and NS1 (Oishi 2009)
  • SHP2 mutations facilitate EGF-induced PI3K/AKT/GSK-3B stimulation through impaired GAB1 dephosphorylation, resulting in deregulation of a novel signaling pathway that could be involved in LEOPS pathology (Edouard 2010)