ArticleClinical epigenetics2019
Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.
Article in Clinical epigenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 29 citations in OpenAlex.
- Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site.Clinical epigenetics · 2026Article
- Using long-read sequencing to detect and subtype a case with Temple syndrome.Journal of medical genetics · 2025Article
- A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.Internal medicine (Tokyo, Japan) · 2025Article
- Long-term Follow-up of a Late Diagnosed Patient with Temple SyndromeJournal of clinical research in pediatric endocrinology · 2024Article
- Enrichment of trimethyl histone 3 lysine 4 in the Dlk1 and Grb10 genes affects pregnancy outcomes due to dietary manipulation of excess folic acid and low vitamin B12.Biological research · 2024Article
- Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.Clinical epigenetics · 2024Article
- 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
- Promising therapeutic aspects in human genetic imprinting disorders.Clinical epigenetics · 2022Review
- ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.Clinical epigenetics · 2021Article
- Humanization of a tandem repeat in IG-DMR causes stochastic restoration of paternal imprinting at mouse Dlk1-Dio3 domain.Human molecular genetics · 2021Article
- Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.The Journal of clinical endocrinology and metabolism · 2021Article
- Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.Human molecular genetics · 2020Review
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Authors and funding
10 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe human chromosome 14q32.2 imprinted region harbors the primary MEG3/DLK1:IG-differentially methylated region (DMR) and secondary MEG3:TSS-DMR. The MEG3:TSS-DMR can remain unmethylated only in the presence of unmethylated MEG3/DLK1:IG-DMR in somatic tissues, but not in the placenta, because of a hierarchical regulation of the methylation pattern between the two DMRs.
methodsWe performed molecular studies in a 4-year-old Japanese girl with Temple syndrome (TS14).
resultsPyrosequencing analysis showed extremely low methylation levels of five CpGs at the MEG3:TSS-DMR and grossly normal methylation levels of four CpGs at the MEG3/DLK1:IG-DMR in leukocytes. HumanMethylation450 BeadChip confirmed marked hypomethylation of the MEG3:TSS-DMR and revealed multilocus imprinting disturbance (MLID) including mild hypomethylation of the H19/IGF2:IG-DMR and mild hypermethylation of the GNAS A/B:TSS-DMR in leukocytes. Bisulfite sequencing showed markedly hypomethylated CpGs at the MEG3:TSS-DMR and irregularly and non-differentially methylated CpGs at the MEG3/DLK1:IG-DMR in leukocytes and apparently normal methylation patterns of the two DMRs in the placenta. Maternal uniparental disomy 14 and a deletion involving this imprinted region were excluded.
conclusionsSuch a methylation pattern of the MEG3/DLK1:IG-DMR has not been reported in patients with TS14. It may be possible that a certain degree of irregular hypomethylation at the MEG3/DLK1:IG-DMR has prevented methylation of the MEG3:TSS-DMR in somatic tissues and that a hypermethylation type MLID has occurred at the MEG3/DLK1:IG-DMR to yield the apparently normal methylation pattern in the placenta.
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