ArticleEuropean journal of human genetics : EJHG2017
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 44 citations in OpenAlex.
- Diagnosis and management of Silver-Russell syndrome: second international consensus statement.Nature reviews. Endocrinology · 2026Review
- Methylation-mediated regulation of tumor-suppressor function of the miR-379/656 (C14MC) cluster and its clinical utility in hepatocellular carcinoma.BMC cancer · 2026Article
- 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
- The expanding landscape of genetic causes of obesity.Pediatric research · 2025Review
- Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.Annals of clinical and translational neurology · 2025Article
- Regulation and tumor-suppressive function of the miR-379/miR-656 (C14MC) cluster in cervical cancer.Molecular oncology · 2024Article
- Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.Clinical epigenetics · 2024Article
- The role of imprinting genes' loss of imprints in cancers and their clinical implications.Frontiers in oncology · 2024Review
- Article
- Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism.Journal of endocrinological investigation · 2023Article
- DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities.JCI insight · 2022Article
- Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.Journal of clinical medicine · 2022Article
- A review on the role of MEG8 lncRNA in human disorders.Cancer cell international · 2022Review
- The contribution of imprinted genes to neurodevelopmental and neuropsychiatric disorders.Translational psychiatry · 2022Review
- Epigenome editing reveals core DNA methylation for imprinting control in the Dlk1-Dio3 imprinted domain.Nucleic acids research · 2022Article
- Review
- Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.Human molecular genetics · 2020Review
- Profiling the DNA methylation patterns of imprinted genes in abnormal semen samples by next-generation bisulfite sequencing.Journal of assisted reproduction and genetics · 2020Article
- Review
- Article
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Authors and funding
18 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The chromosomal region 14q32 contains several imprinted genes, which are expressed either from the paternal (DLK1 and RTL1) or the maternal (MEG3, RTL1as and MEG8) allele only. Imprinted expression of these genes is regulated by two differentially methylated regions (DMRs), the germline DLK1/MEG3 intergenic (IG)-DMR (MEG3/DLK1:IG-DMR) and the somatic MEG3-DMR (MEG3:TSS-DMR), which are methylated on the paternal and unmethylated on the maternal allele. Disruption of imprinting in the 14q32 region results in two clinically distinct imprinting disorders, Temple syndrome (TS14) and Kagami-Ogata syndrome (KOS14). Another DMR with a yet unknown function is located in intron 2 of MEG8 (MEG8-DMR, MEG8:Int2-DMR). In contrast to the IG-DMR and the MEG3-DMR, this somatic DMR is methylated on the maternal chromosome and unmethylated on the paternal chromosome. We have performed extensive methylation analyses by deep bisulfite sequencing of the IG-DMR, MEG3-DMR and MEG8-DMR in different prenatal tissues including amniotic fluid cells and chorionic villi. In addition, we have studied the methylation pattern of the MEG8-DMR in different postnatal tissues. We show that the MEG8-DMR is hypermethylated in each of 13 non-deletion TS14 patients (seven newly identified and six previously published patients), irrespective of the underlying molecular cause, and is always hypomethylated in the four patients with KOS14, who have different deletions not encompassing the MEG8-DMR itself. The size and the extent of the deletions and the resulting methylation pattern suggest that transcription starting from the MEG3 promoter may be necessary to establish the methylation imprint at the MEG8-DMR.
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