Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

被引：0
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作者：
Angela Sparago
Flavia Cerrato
Maria Vernucci
Giovanni Battista Ferrero
Margherita Cirillo Silengo
Andrea Riccio
机构：
[1] Seconda Università di Napoli,Dipartimento di Scienze Ambientali
[2] via Vivaldi 43,Dipartimento di Scienze Pediatriche e dell'Adolescenza
[3] Università di Torino,undefined
来源：
Nature Genetics | 2004年 / 36卷
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摘要：
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.
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页码：958 / 960
页数：2
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