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Franck Court, Alex Martin-Trujillo, Valeria Romanelli, Intza Garin, Isabel Iglesias-Platas, Ira Salafsky, Miriam Guitart, Guiomar Perez de Nanclares, Pablo Lapunzina and David Monk Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes Human Mutation 34

Article first published online: 19 FEB 2013 | DOI: 10.1002/humu.22276

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Genomic imprinting is the parent-of-origin specific allelic transcriptional silencing observed in mammals. Abnormal methylation at imprinted loci is associated with various imprinting syndromes. We analysed of 26 imprinted DMRs and identified multi-locus hypomethyaltion in numerous BWS, TNDM and PHP-1B patients, and an individual with SRS, but not in PWS or AS patients. A mutation screen of ZFP57, NLRP2, NLRP7 and KHDC3L revealed only one causative change, a ZFP57 1bp deletion, in a TNDM patient with multiple-hypomethylation.

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