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Title:

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

Document type:
Article
Author(s):
Beygo, Jasmin; Buerger, Joachim; Strom, Tim M.; Kaya, Sabine; Buiting, Karin
Abstract:
Beckwith-Wiedemann syndrome (BWS; OMIM #130650) is an imprinting disorder caused by genetic or epigenetic alterations of one or both imprinting control regions on chromosome 11p15.5. Hypomethylation of the centromeric imprinting control region (KCNQ1OT1:TSS-DMR, ICR2) is the most common molecular cause of BWS and is present in about half of the cases. Based on a BWS family with a maternal deletion of the 5' part of KCNQ1 we have recently hypothesised that transcription of KCNQ1 is a prerequisit...     »
Journal title abbreviation:
Eur J Hum Genet
Year:
2019
Journal volume:
27
Journal issue:
6
Pages contribution:
903-908
Fulltext / DOI:
doi:10.1038/s41431-019-0365-x
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/30778172
Print-ISSN:
1018-4813
TUM Institution:
Institut für Humangenetik
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