2006
DOI: 10.1086/502981
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Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Abstract: The H19 differentially methylated region (DMR) controls the allele-specific expression of both the imprinted H19 tumor-suppressor gene and the IGF2 growth factor. Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy. Here, we report a series of patients with hypomethylation of the H19 locus. Their main clinical features of asymmetry and growth retardat… Show more

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Cited by 194 publications
(181 citation statements)
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“…In fact, in most of the SRS patients, loss of DNA methylation at the H19 ICR was not detected in all of the blood cells analysed, and also tissue-derived fibroblasts showed mosaic loss of methylation. (1,3) This suggests that the loss of H19 methylation in these sporadic cases did not originate from the sperm, in which case it would have persisted in all the cells of the conceptus. Rather, the loss of methylation likely reflects an early embryonic event.…”
Section: Introductionmentioning
confidence: 94%
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“…In fact, in most of the SRS patients, loss of DNA methylation at the H19 ICR was not detected in all of the blood cells analysed, and also tissue-derived fibroblasts showed mosaic loss of methylation. (1,3) This suggests that the loss of H19 methylation in these sporadic cases did not originate from the sperm, in which case it would have persisted in all the cells of the conceptus. Rather, the loss of methylation likely reflects an early embryonic event.…”
Section: Introductionmentioning
confidence: 94%
“…1B). Importantly, the loss of methylation in about a third of patients correlated with strongly reduced IGF2 expression and biallelic expression of H19 (1)(2)(3)20) Remarkably, in about 10% of Beckwith-Wiedemann Syndrome patients, there is the exact opposite epigenetic alteration. These patients have biallelic DNA methylation at the H19 ICR and H19 promoter, with loss of H19 expression, and biallelic expression of IGF2 (Fig.…”
Section: Introductionmentioning
confidence: 95%
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