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To further characterize the role of epimutations in RSS we evaluated the methylation status at both 11p15.5 imprinting control regions (ICRs): ICR1 associated with <jats:italic>H19\/IGF2<\/jats:italic> expression and ICR2 (KvDMR1) associated with <jats:italic>CDKN1C<\/jats:italic> expression in a series of 35 patients with RSS. We also evaluated methylation at the promoter regions of other imprinted genes involved in growth such as <jats:italic>PLAGL1<\/jats:italic> (6q24), <jats:italic>GCE<\/jats:italic> (7q21), and <jats:italic>PEG10<\/jats:italic> (7q21) in this series of 35 patients with RSS. Thirteen of the 35 patient samples, but none of 22 controls, showed methylation levels at ICR1 that were more than 2 SD below the mean for controls. Three RSS patients were highly methylated at the <jats:italic>SCGE<\/jats:italic> promoter, all of which were diagnosed with upd(7)mat. To identify further potential global methylation changes in RSS patients, a subset of 22 patients were evaluated at 1505 CpG sites by the Illumina GoldenGate methylation array. Among the few CpG sites displaying a significant difference between RSS patients and controls, was a CpG associated with the <jats:italic>H19<\/jats:italic> promoter. No other sites associated with known imprinted genes were identified as abnormally methylated in RSS patients by this approach. While the association of hypomethylation of the <jats:italic>H19\/IGF2<\/jats:italic> ICR1 is clear, the continuous distribution of methylation values among the patients and controls complicates the establishment of clear cut\u2010offs for clinical diagnosis. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33204","type":"journal-article","created":{"date-parts":[[2010,1,15]],"date-time":"2010-01-15T22:31:04Z","timestamp":1263594664000},"page":"347-355","source":"Crossref","is-referenced-by-count":32,"title":["Methylation profiling in individuals with Russell\u2013Silver syndrome"],"prefix":"10.1002","volume":"152A","author":[{"given":"Maria S.","family":"Pe\u00f1aherrera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Weindler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot I.","family":"Van 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