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Article

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.

Genes - 9 May 2021

Sparago Angela, Cerrato Flavia, Pignata Laura, Cammarata-Scalisi Francisco, Garavelli Livia, Piscopo Carmelo, Vancini Alessandra, Riccio Andrea

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by prenatal and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor predisposition. CDKN1C is a maternally expressed gene of the 11p15.5 chromosomal region and is regulated by the imprinting control region IC2. It negatively controls cellular proliferation, and its expression or activity are frequently reduced in BWS. In...

Topics

Adolescent
Adult
Beckwith-Wiedemann Syndrome
Cyclin-Dependent Kinase Inhibitor p57
Female
Humans
Loss of Function Mutation
Male
Pedigree
Phenotype

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Identifiers

PMID: 34065128
DOI: 10.3390/genes12050706
PMCID: PMC8151838

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