ArticleEuropean journal of human genetics : EJHG2010
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it.
- International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.Endocrine reviews · 2023Guideline
- Article
- Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.The Journal of clinical endocrinology and metabolism · 2021Article
- Review
- Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.Genetics research · 2019Article
- The association between IUGR and maternal inherited thrombophilias: A case-control study.Medicine · 2018Observational
- Role of DNA methylation in imprinting disorders: an updated review.Journal of assisted reproduction and genetics · 2017Review
- An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.Journal of pediatric genetics · 2017Review
- Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Nature reviews. Endocrinology · 2017Article
- Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.Molecular syndromology · 2016Review
- New developments in Silver-Russell syndrome and implications for clinical practice.Epigenomics · 2016Review
- Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.BMC medical genetics · 2016Article
- The promoter methylomes of monochorionic twin placentas reveal intrauterine growth restriction-specific variations in the methylation patterns.Scientific reports · 2016Article
- High Frequency of Imprinted Methylation Errors in Human Preimplantation Embryos.Scientific reports · 2015Article
- Effects of Maternal Obesity on Fetal Programming: Molecular Approaches.Cold Spring Harbor perspectives in medicine · 2015Review
- Genome-wide methylation analysis in Silver-Russell syndrome patients.Human genetics · 2015Article
- Altered expression of the imprinted transcription factor PLAGL1 deregulates a network of genes in the human IUGR placenta.Human molecular genetics · 2014Article
- Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.Journal of molecular medicine (Berlin, Germany) · 2014Article
- Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction.Seminars in neurology · 2014Review
- 11p15 DNA-methylation analysis in monozygotic twins with discordant intrauterine development due to severe twin-to-twin transfusion syndrome.Clinical epigenetics · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study was an investigation of 79 patients referred to the Wessex Regional Genetics Laboratory with suspected Russell-Silver Syndrome or unexplained short stature/intra uterine growth restriction, warranting genetic investigation. Methylation status was analysed at target sequences within eleven imprinted loci (PLAGL1, IGF2R, PEG10, MEST1, GRB10, KCNQ1OT1, H19, IGF2P0, DLK1, PEG3, NESPAS). Thirty seven percent (37%) (29 of 79) of samples were shown to have a methylation abnormality. The commonest finding was a loss of methylation at H19 (23 of 29), as previously reported in Russell-Silver Syndrome. In addition, four of these patients had methylation anomalies at other loci, of whom two showed hypomethylation of multiple imprinted loci, and two showed a complete gain of methylation at IGF2R. This latter finding was also present in five other patients who did not have demonstrable changes at H19. In total, 7 of 79 patients showed a gain of methylation at IGF2R and this was significantly different from a normal control population of 267 individuals (P=0.002). This study in patients with growth restriction shows the importance of widening the epigenetic investigation to include multiple imprinted loci and highlights potential involvement of the IGF2R locus.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.