Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.

European Journal of Human Genetics : EJHG
Claire Louise Susan TurnerI Karen Temple

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 i...Continue Reading

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Citations

Dec 15, 2010·European Journal of Human Genetics : EJHG·Thomas EggermannI Karen Temple
Jan 6, 2011·European Journal of Human Genetics : EJHG·Emma L BapleDeborah J G Mackay
Aug 25, 2011·European Journal of Human Genetics : EJHG·Susanne E BoonenKaren Grønskov
Dec 13, 2012·European Journal of Human Genetics : EJHG·Susanne BensReiner Siebert
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