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IGF2, H19, CDKNIC, KCNQ1OT1, and the Beckwith-Wiedemann Syndrome 

IGF2, H19, CDKNIC, KCNQ1OT1, and the Beckwith-Wiedemann Syndrome
IGF2, H19, CDKNIC, KCNQ1OT1, and the Beckwith-Wiedemann Syndrome

Marcel Mannens

, I. Karen Temple

, and Frederic Brioude

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date: 25 February 2021

Beckwith–Wiedemann syndrome (BWS) (OMIM 130650) is a disorder of pre and postnatal overgrowth, birth defects, and predisposition to cancer, and therefore of great interest in understanding embryogenesis and malignancy. BWS is also a paradigm to evaluate the role of epigenetics, that is, heritable information not embodied within the DNA sequence itself. Genomic imprinting is a parent of origin-specific mark in the gamete, which leads to preferential expression of a specific parental allele in somatic cells of the offspring. Imprinted genes are often marked by differential DNA methylation of the two parental alleles. Several genes in an imprinted genomic domain of 11p15 are involved in the disorder, with insulin-like growth factor 2 (IGF2) and H19 associated with cancer and CDKN1C and KCNQ1OT1, linked to midline abdominal wall defects. There also are likely additional genes involved in the pathogenesis of BWS.

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