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.
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.
Authors: Jasmin Beygo; Alma Küchler; Gabriele Gillessen-Kaesbach; Beate Albrecht; Jonas Eckle; Thomas Eggermann; Alexandra Gellhaus; Deniz Kanber; Ulrike Kordaß; Hermann-Josef Lüdecke; Sabine Purmann; Eva Rossier; Johannes van de Nes; Ilse M van der Werf; Maren Wenzel; Dagmar Wieczorek; Bernhard Horsthemke; Karin Buiting Journal: Eur J Hum Genet Date: 2017-06-21 Impact factor: 4.246
Authors: Hui Yu; Jolena N Waddell; Shihuan Kuang; Ross L Tellam; Noelle E Cockett; Christopher A Bidwell Journal: BMC Genomics Date: 2018-04-24 Impact factor: 3.969