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Article

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.

Journal of medical genetics - 1 Aug 2014

Demars Julie, Shmela Mansur Ennuri, Khan Abdul Waheed, Lee Kai Syin, Azzi Salah, Dehais Patrice, Netchine Irène, Rossignol Sylvie, Le Bouc Yves, El-Osta Assam, Gicquel Christine

Abstract excerpt

BACKGROUND: Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS; MIM 130650) and the Silver-Russell (SRS; MIM 180860) syndromes. DNA methylation defects account for 60% of BWS and SRS cases and, in most cases, occur without an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24996904
DOI: 10.1136/jmedgenet-2014-102368

Genes

CTCF
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24996904-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.PMID 24996904Read ↗

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