ArticleBMC medical genetics2016
Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.
Article in BMC medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review.BMC nephrology · 2019Pooled it
- Genome-wide DNA methylation changes after 24 hours at high altitude.Environmental epigenetics · 2026Article
- Impact of placental and peripheral blood DNA methylation on celiac disease susceptibility.Journal of pediatric gastroenterology and nutrition · 2025Article
- Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.European journal of human genetics : EJHG · 2025Article
- 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
- Epigenome-wide association study using peripheral blood leukocytes identifies genomic regions associated with periodontal disease and edentulism in the Atherosclerosis Risk in Communities study.Journal of clinical periodontology · 2023Article
- Review
- Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.Clinical epigenetics · 2023Article
- Article
- Methylome Profiling in Fabry Disease in Clinical Practice: A Proof of Concept.International journal of molecular sciences · 2022Article
- Genome-wide detection of imprinted differentially methylated regions using nanopore sequencing.eLife · 2022Article
- A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.Journal of human genetics · 2021Article
- Features and mechanisms of canonical and noncanonical genomic imprinting.Genes & development · 2021Review
- Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China.Endocrine · 2020Article
- Review
- Review
- Association study identified biologically relevant receptor genes with synergistic functions in celiac disease.Scientific reports · 2019Article
- Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren's disease.BMC medical genomics · 2019Article
- Laser capture microdissection of human pancreatic islets reveals novel eQTLs associated with type 2 diabetes.Molecular metabolism · 2019Article
- ZNF445 is a primary regulator of genomic imprinting.Genes & development · 2019Article
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTransient neonatal diabetes mellitus 1 (TNDM1) is a rare imprinting disorder characterized by intrautering growth retardation and diabetes mellitus usually presenting within the first six weeks of life and resolves by the age of 18 months. However, patients have an increased risk of developing diabetes mellitus type 2 later in life. Transient neonatal diabetes mellitus 1 is caused by overexpression of the maternally imprinted genes PLAGL1 and HYMAI on chromosome 6q24. One of the mechanisms leading to overexpression of the locus is hypomethylation of the maternal allele of PLAGL1 and HYMAI. A subset of patients with maternal hypomethylation at PLAGL1 have hypomethylation at additional imprinted loci throughout the genome, including GRB10, ZIM2 (PEG3), MEST (PEG1), KCNQ1OT1 and NESPAS (GNAS-AS1). About half of the TNDM1 patients carry mutations in ZFP57, a transcription factor involved in establishment and maintenance of methylation of imprinted loci. Our objective was to investigate whether additional regions are aberrantly methylated in ZFP57 mutation carriers.
methodsGenome-wide DNA methylation analysis was performed on four individuals with homozygous or compound heterozygous ZFP57 mutations, three relatives with heterozygous ZFP57 mutations and five controls. Methylation status of selected regions showing aberrant methylation in the patients was verified using bisulfite-sequencing.
resultsWe found large variability among the patients concerning the number and identity of the differentially methylated regions, but more than 60 regions were aberrantly methylated in two or more patients and a novel region within PPP1R13L was found to be hypomethylated in all the patients. The hypomethylated regions in common between the patients are enriched for the ZFP57 DNA binding motif.
conclusionsWe have expanded the epimutational spectrum of TNDM1 associated with ZFP57 mutations and found one novel region within PPP1R13L which is hypomethylated in all TNDM1 patients included in this study. Functional studies of the locus might provide further insight into the etiology of the disease.
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