2007
DOI: 10.1007/s10815-006-9096-3
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Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST

Abstract: Purpose: The prevalence of low birth weight (LBW) is increased in subjects born after assisted reproduction technology (ART), and defective imprinting has frequently been identified in patients with BeckwithWiedermann and Angelman syndromes conceived by ART. Thus, we examined methylation pattern in a girl born after ART who had Silver-Russell syndrome (SRS) which can be caused by maternal uniparental disomy for chromosome 7 and by hypomethylation of the differentially methylated region (DMR) of H19.Methods: We… Show more

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Cited by 124 publications
(99 citation statements)
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“…MEST hypomethylation in SRS-MLID has also been reported by other authors [8,19,28,31] as a distinct mechanism compared to mUPD(7), leading to GOM at this iDMR [32]. In our cases, LOM at MEST in SRS-MLID patients further sustains a key role of this iDMR in SRS.…”
Section: Discussionsupporting
confidence: 89%
See 1 more Smart Citation
“…MEST hypomethylation in SRS-MLID has also been reported by other authors [8,19,28,31] as a distinct mechanism compared to mUPD(7), leading to GOM at this iDMR [32]. In our cases, LOM at MEST in SRS-MLID patients further sustains a key role of this iDMR in SRS.…”
Section: Discussionsupporting
confidence: 89%
“…Among the analyzed iDMRs, only PLAGL1 and MEG3 did not show aberrant methylation in any BWS/SRS case. In addition, both cases with SRS and MLID exhibited severe hypomethylation at MEST (7q32), involved in maternal UPD(7q) in SRS patients [28]. …”
Section: Resultsmentioning
confidence: 99%
“…The H19/IGF2, GTL2/ DLK1 regions and MEST are important regulators of prenatal growth (DeChiara et al 1990, Kaneko-Ishino et al 1995, Georgiades et al 2000. Abnormal methylation within the three DMRs has been associated with imprinting syndromes observed in children (Kagami et al 2007) and abortuses achieved through the use of ICSI (Kobayashi et al 2009). Therefore, abnormal methylation at imprinted genes in the sperm may not only be associated with male factor infertility but may also be passed on to the progeny through the use of ICSI and affect pregnancy outcome.…”
Section: Introductionmentioning
confidence: 99%
“…The ICRs appear to be gaining more genes from rodents to humans and are particularly important for regulation of gene dosage, as revealed from the complex disrupted phenotypes that are produced by perturbations to the ICR without any effects on the imprinted genes themselves in Prader-Willi syndrome and Angelman's syndrome (Rabinovitz et al, 2012) and Silver-Russell syndrome (Kagami et al, 2007). Many of these imprinted genes are co-regulated as an 'imprinting network' that serves a similar functional goal, such as that of controlling growth and metabolic rates (Sandhu, 2010).…”
Section: Imprinted Gene Networkmentioning
confidence: 99%