Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.

Masayo KagamiAtsuhiro YanagisawaMiyuki OtaKentaro MatsuokaAkie NakamuraKeiko MatsubaraKazuhiko NakabayashiShuji TakadaMaki FukamiTsutomu Ogata

Published in: Clinical epigenetics (2019)

Such a methylation pattern of the MEG3/DLK1:IG-DMR has not been reported in patients with TS14. It may be possible that a certain degree of irregular hypomethylation at the MEG3/DLK1:IG-DMR has prevented methylation of the MEG3:TSS-DMR in somatic tissues and that a hypermethylation type MLID has occurred at the MEG3/DLK1:IG-DMR to yield the apparently normal methylation pattern in the placenta.

Keyphrases

resting state
genome wide
dna methylation
functional connectivity
gene expression
copy number