Epigenetics in Rare Diseases

Rare hereditary recessive diseases were thought to be expressed in offspring only when both parents carry a mutation in the causal gene. A rare disease is any condition that affects a small percentage of the population. Some rare diseases have an epigenetic component or involve epigenetically regulated genes. While genetic mutations are very rare, epigenetic changes are common and occur through our lifetimes. Some of the disorders due to mutations in histone modifiers are: Rubinstein-Taybi syndrome, Sotos syndrome (associated with mutations in the histone methyltransferase NSD1) or Weaver syndrome (due to mutations in the histone methyltransferase EZH2), among others. As new members of the epigenetic machinery are described, the number of human syndromes associated with epigenetic alterations increases.


  • Rett Syndrome (RTT)
  • Rubinstein-Tabi Syndrome (RTS)
  • Instability Facial Syndrome 1 (ICF1)
  • Sotos Syndrome

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