The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome

Susanne Bens*, Julia Kolarova, Gabriele Gillessen-Kaesbach, Karin Buiting, Jasmin Beygo, Almuth Caliebe, Ole Ammerpohl, Reiner Siebert

*Corresponding author for this work
13 Citations (Scopus)


Aim: To investigate the DNA-methylation levels in the newly described MEG8 differentially methylated region (DMR) in the imprinted cluster in 14q32 in patients with Temple syndrome. Patients & methods: We included three patients with Temple syndrome which were studied by Infinium HumanMethylation450 BeadChips, locus-specific bisulfite-pyrosequencing, methylation-specific-MLPA and microsatellite analyses. The tag-CpG of the MEG8-DMR was investigated using the Infinium HumanMethylation450 BeadChip. Results: In all three patients, the identical pattern of DNA-hypermethylation of the MEG8-DMR was observed along with DNA-hypomethylation of the IG-DMR and MEG3-DMR. Conclusion: Based on the observed MEG8-DMR DNA-hypermethylation and previously published data, we conclude that DNA-methylation of the MEG3- and MEG8-DMR is functionally dependent on the DNA-methylation pattern of the IG-DMR. The observed combination of epimutations is predicted to be associated with bi-allelic MEG3 and MEG8 expression in individuals with Temple syndrome.

Original languageEnglish
Issue number7
Pages (from-to)1089-1097
Number of pages9
Publication statusPublished - 10.2015

Research Areas and Centers

  • Research Area: Medical Genetics


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