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Article

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.

Clinical epigenetics - 11 May 2020

Eßinger Carla, Karch Stephanie, Moog Ute, Fekete György, Lengyel Anna, Pinti Eva, Eggermann Thomas, Begemann Matthias

Abstract excerpt

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by disturbances of the chromosomal region 11p15.5. The most frequent molecular finding in BWS is loss of methylation (LOM) of the Imprinting Centre 2 (IC2) region on the maternal allele, which is localised in intron 10 of the KCNQ1 gene. In rare cases, LOM of IC2 has been reported in families with KCNQ1 germline variants which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32393365
DOI: 10.1186/s13148-020-00856-y
PMCID: PMC7216698

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