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DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

L C SchenkelE Aref-EshghiK RooneyJ KerkhofM A LevyH McConkeyR C RogersK PhelanS M SarasuaL JainR PaulyL BoccutoB DuPontG CappuccioN Brunetti-PierriC E SchwartzBekim Sadikovic
Published in: Clinical epigenetics (2021)
We identified the critical region including the BRD1 gene as responsible for the Phelan-McDermid syndrome epi-signature. Metabolomic profiles of individuals with the DNA methylation epi-signature showed significantly different metabolomic profiles indicating evidence of two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.
Keyphrases
  • dna methylation
  • genome wide
  • case report
  • gene expression
  • copy number