title: The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.affiliation: Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Susanne
authors.initials: S
authors.lastname: Bens
authors.affiliation: Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Kolarova
authors.affiliation: Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.affiliation: Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Buiting
authors.affiliation: Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
authors.forename: Jasmin
authors.initials: J
authors.lastname: Beygo
authors.affiliation: Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Almuth
authors.initials: A
authors.lastname: Caliebe
authors.affiliation: Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Ole
authors.initials: O
authors.lastname: Ammerpohl
authors.affiliation: Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D018899:CpG Islands; D019175:DNA Methylation; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D044127:Epigenesis, Genetic; D005260:Female; D018392:Genomic Imprinting; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D059368:RNA Isoforms / Q000235:genetics*; D062085:RNA, Long Noncoding / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics* / Q000473:pathology
chemical_list: C498907:MEG3 non-coding RNA, human; D059368:RNA Isoforms; D062085:RNA, Long Noncoding
keywords: DNA methylation; IG-DMR; MEG3; MEG3-DMR; MEG8; MEG8-DMR; Temple syndrome; imprinting