History of Genetics in Rett Syndrome

  • Early Theories:
    • X-linked dominant, male-lethal (XDML) inheritance model.
    • Differences in severity linked to X-chromosome inactivation (XCI).
  • Key Genetic Discoveries:
    • MECP2 mutations identified as the usual cause of classic RTT.
    • Mutations arise predominantly during spermatogenesis.
  • Rare Cases:
    • Male presentations: Mosaicism or Klinefelter syndrome (47,XXY).
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