ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 44 citations in OpenAlex.
- Article
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Understanding brain calcification via N-terminal acetylation at the Golgi apparatus.Brain : a journal of neurology · 2025Review
- An unstable variant of GAP43 leads to neurodevelopmental deficiency.Scientific reports · 2024Article
- Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.Clinical epigenetics · 2024Review
- Kagami Ogata syndrome: a small deletion refines critical region for imprinting.NPJ genomic medicine · 2024Article
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.Clinical epigenetics · 2023Article
- Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes.Frontiers in genetics · 2023Article
- Article
- Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome.The journal of obstetrics and gynaecology research · 2022Article
- Promising therapeutic aspects in human genetic imprinting disorders.Clinical epigenetics · 2022Review
- Article
- A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.American journal of medical genetics. Part A · 2022Article
- Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.Clinical epigenetics · 2022Article
- Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics.Frontiers in genetics · 2022Review
- Loss of imprinting of the human-specific imprinted geneJournal of medical genetics · 2021Article
- Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.Clinical epigenetics · 2020Article
- Review
- DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
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9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeRecent studies have identified multilocus imprinting disturbances (MLIDs) in a subset of patients with imprinting diseases (IDs) caused by epimutations. We examined MLIDs in patients with Temple syndrome (TS14) and Kagami-Ogata syndrome (KOS14).
methodsWe studied four TS14 patients (patients 1-4) and five KOS14 patients (patients 5-9) with epimutations. We performed HumanMethylation450 BeadChip (HM450k) analysis for 43 differentially methylated regions (DMRs) (753 CpG sites) and pyrosequencing for 12 DMRs (62 CpG sites) using leukocyte genomic DNA (Leu-gDNA) of patients 1-9, and performed HM450k analysis for 43 DMRs (a slightly different set of 753 CpG sites) using buccal cell gDNA (Buc-gDNA) of patients 1, 3, and 4. We also performed mutation analysis for six causative and candidate genes for MLIDs and quantitative expression analysis using immortalized lymphocytes in MLID-positive patients.
resultsMethylation analysis showed hypermethylated ZDBF2-DMR and ZNF597/NAA60-DMR, hypomethylated ZNF597-DMR in both Leu-gDNA and Buc-gDNA, and hypomethylated PPIEL-DMR in Buc-gDNA of patient 1, and hypermethylated GNAS-A/B-DMR in Leu-gDNA of patient 3. No mutations were detected in the six genes for MLIDs. Expression patterns of ZDBF2, ZNF597, and GNAS-A/B were consistent with the identified MLIDs.
conclusionThis study indicates the presence of MLIDs in TS14 patients but not in KOS14 patients.Genet Med 19 4, 476-482.
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