Abstract:
:The overgrowth- and tumor-associated Beckwith-Wiedemann syndrome results from dysregulation of imprinted genes on chromosome 11p15.5. Here we show that inherited microdeletions in the H19 differentially methylated region (DMR) that abolish two CTCF target sites cause this disease. Maternal transmission of the deletions results in hypermethylation of the H19 DMR, biallelic IGF2 expression, H19 silencing and Beckwith-Wiedemann syndrome, indicative of loss of function of the IGF2-H19 imprinting control element.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Sparago A,Cerrato F,Vernucci M,Ferrero GB,Silengo MC,Riccio Adoi
10.1038/ng1410keywords:
subject
Has Abstractpub_date
2004-09-01 00:00:00pages
958-60issue
9eissn
1061-4036issn
1546-1718pii
ng1410journal_volume
36pub_type
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