Abstract:
:The Beckwith-Wiedemann syndrome is caused by disturbed imprinting of genes at 11p15.5. Routine diagnostic testing for Beckwith-Wiedemann syndrome (BWS) includes methylation analysis of the imprinting centers ICR1 and ICR2 in DNA extracted from lymphocytes. In approximately 15% of BWS patients the diagnosis cannot be molecularly confirmed. In this study we determined the methylation status in resected tongue tissue of 11 BWS patients and compared this to the genetic defects found by routine diagnostic screening of blood lymphocytes. In all three patients with normal methylation levels in blood, aberrant methylation patterns were found in tongue tissue. In two patients a UPD was detected and the third case had hypermethylation of ICR1. This result shows that tissue specific mosaic (epi)genetic changes, not present in blood, is the underlying defect in at least a subset of BWS patients without a molecular diagnosis after standard genetic testing.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Alders M,Maas SM,Kadouch DJ,van der Lip K,Bliek J,van der Horst CM,Mannens MMdoi
10.1016/j.ejmg.2014.03.011subject
Has Abstractpub_date
2014-05-01 00:00:00pages
293-7issue
6eissn
1769-7212issn
1878-0849pii
S1769-7212(14)00064-0journal_volume
57pub_type
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