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