Rare Diseases Symptoms Automatic Extraction

Epigenetics, autism spectrum, and neurodevelopmental disorders.

[kabuki syndrome]

Epigenetic marks are modifications of DNA and histones. They are considered to be permanent within a single cell during development, and are heritable across cell division. Programming of neurons through epigenetic mechanisms is believed to be critical in neural development. Disruption or alteration in this process causes an array of neurodevelopmental disorders, including autism spectrum disorders (ASDs). Recent studies have provided evidence for an altered epigenetic landscape in ASDs and demonstrated the central role of epigenetic mechanisms in their pathogenesis. Many of the genes linked to the ASDs encode proteins that are involved in transcriptional regulation and chromatin remodeling. In this review we highlight selected neurodevelopmental disorders in which epigenetic dysregulation plays an important role. These include Rett syndrome, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, and Kabuki syndrome. For each of these disorders, we discuss how advances in our understanding of epigenetic mechanisms may lead to novel therapeutic approaches.

Diseases presenting "central role" symptom

  • erdheim-chester disease
  • gm1 gangliosidosis
  • inclusion body myositis
  • kabuki syndrome
  • locked-in syndrome
  • primary effusion lymphoma
  • severe combined immunodeficiency
  • von hippel-lindau disease
  • wiskott-aldrich syndrome

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