ArticleEuropean journal of human genetics : EJHG2015
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 57 citations in OpenAlex.
- Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.Clinical epigenetics · 2025Article
- Allele-specific genomics decodes gene targets and mechanisms of the non-coding genome.Nucleic acids research · 2025Article
- Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.BMC medical genomics · 2024Review
- The long non-coding RNA Meg3 mediates imprinted gene expression during stem cell differentiation.Nucleic acids research · 2024Article
- Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.Clinical epigenetics · 2024Article
- Kagami Ogata syndrome: a small deletion refines critical region for imprinting.NPJ genomic medicine · 2024Article
- Imprinted Long Non-Coding RNAs in Mammalian Development and Disease.International journal of molecular sciences · 2023Review
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Inference of putative cell-type-specific imprinted regulatory elements and genes during human neuronal differentiation.Human molecular genetics · 2023Article
- Methylation is maintained specifically at imprinting control regions but not other DMRs associated with imprinted genes in mice bearing a mutation in theFrontiers in cell and developmental biology · 2023Article
- First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.Clinical epigenetics · 2022Article
- The Evolutionary Advantage in Mammals of the Complementary Monoallelic Expression Mechanism of Genomic Imprinting and Its Emergence From a Defense Against the Insertion Into the Host Genome.Frontiers in genetics · 2022Review
- Multi-omics integration reveals a six-malignant cell maker gene signature for predicting prognosis in high-risk neuroblastoma.Frontiers in neuroinformatics · 2022Article
- Case report: Prenatal diagnosis of Kagami-Ogata syndrome in a Chinese family.Frontiers in genetics · 2022Article
- Kagami-Ogata Syndrome: Case Series and Review of Literature.AJP reports · 2021Article
- Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami-Ogata Syndrome.Frontiers in pediatrics · 2021Article
- The Role of Long Non-coding RNAs in Human Imprinting Disorders: Prospective Therapeutic Targets.Frontiers in cell and developmental biology · 2021Review
- Meg3-DMR, not the Meg3 gene, regulates imprinting of the Dlk1-Dio3 locus.Developmental biology · 2019Article
- Novel parent-of-origin-specific differentially methylated loci on chromosome 16.Clinical epigenetics · 2019Article
- Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome.Journal of human genetics · 2018Article
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
The imprinted region on chromosome 14q32 harbors several maternally or paternally expressed genes as well as two DMRs (differentially methylated regions), the IG-DMR and the MEG3-DMR, which both act as imprinting control centers. Genetic aberrations affecting the imprinted gene cluster in 14q32 result in distinct phenotypes, known as maternal or paternal uniparental disomy 14 phenotypes (upd(14)mat, upd(14)pat). In both syndromes, three types of molecular alterations have been reported: uniparental disomy 14, deletions and epimutations. In contrast to uniparental disomy and epimutations, deletions affecting regulatory elements in 14q32 are associated with a high-recurrence risk. Based on two single deletion cases a functional hierarchy of the IG-DMR as a regulator for the methylation of the MEG3-DMR has been proposed. We have identified two novel deletions of maternal origin spanning the MEG3-DMR, but not the IG-DMR in patients with upd(14)pat syndrome, one de novo deletion of 165 kb and another deletion of 5.8 kb in two siblings. The 5.8 kb deletion was inherited from the phenotypically normal mother, who carries the deletion in a mosaic state on her paternal chromosome 14. The methylation at both DMRs was investigated by quantitative next generation bisulfite sequencing and revealed normal methylation patterns at the IG-DMR in all patients with the exception of certain CpG dinucleotides. Thus, we could confirm that deletions of the MEG3-DMR does not generally influence the methylation pattern of the IG-DMR, which strengthens the hypothesis of a hierarchical structure and distinct functional properties of the two DMRs.
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