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GENATLAS PHENOTYPE
last update : 16/06/2006
Symbol MCPRS
Location 1q22
Name myopathy and cutaneous progeria syndrome
Corresponding gene LMNA
Main clinical features
  • early-onset myopath , premature ageing in late adolescence, with graying of hair, loss of fat, wrinkled skin, dysfunction of cardiac valves, aggressive atherosclerosis cerebral and peripheral, premature death, and in any cases, nephrosclerosis and skin malignancies
    • Genetic determination not applicable
    Function/system disorder dermatology
    cardiovascular
    metabolism/lipoprotein-lipid
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     S143F mutation affect specifically SYNE2, and affects nuclear envelope architecture and composition, chromatin organization, gene expression and transcription, but nesprins are implicated in the pathogenic mechanism of the S143F mutation
    Remark(s)