{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:00:27Z","timestamp":1761102027427},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2012,5,10]],"date-time":"2012-05-10T00:00:00Z","timestamp":1336608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gain of methylation (GOM) at the H19\u2010differentially methylated region (H19\u2010DMR) is one of several causative alterations in Beckwith\u2013Wiedemann syndrome (BWS), an imprinting\u2010related disorder. In most patients with epigenetic changes at H19\u2010DMR, the timing of and mechanism mediating GOM is unknown. To clarify this, we analyzed methylation at the imprinting control regions of somatic tissues and the placenta from two unrelated, naturally conceived patients with sporadic BWS. Maternal H19\u2010DMR was abnormally and variably hypermethylated in both patients, indicating epigenetic mosaicism. Aberrant methylation levels were consistently lower in placenta than in blood and skin. Mosaic and discordant methylation strongly suggested that aberrant hypermethylation occurred after implantation, when genome\u2010wide de novo methylation normally occurs. We expect aberrant de novo hypermethylation of H19\u2010DMR happens to a greater extent in embryos than in placentas, as this is normally the case for de novo methylation. In addition, of 16 primary imprinted DMRs analyzed, only H19\u2010DMR was aberrantly methylated, except for NNAT DMR in the placental chorangioma of Patient 2. To our knowledge, these are the first data suggesting when GOM of H19\u2010DMR occurs. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35335","type":"journal-article","created":{"date-parts":[[2012,5,10]],"date-time":"2012-05-10T20:57:48Z","timestamp":1336683468000},"page":"1670-1675","source":"Crossref","is-referenced-by-count":7,"title":["Aberrant methylation of H19\u2010DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith\u2013Wiedemann 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