title: (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.
abstract: Beckwith-Wiedemann syndrome (BWS) is the commonest overgrowth cancer predisposition disorder and represents a model for human imprinting dysregulation and tumorigenesis. BWS features can variably combine and present a widely variable range of severity in the phenotypic expression. This wide spectrum is paralleled at molecular level by complex (epi)genetic defects on chromosome 11p15.5 leading to disrupted expression of imprinted genes controlling growth and cellular proliferation. In this review, we outline the spectrum of clinical manifestations of BWS analyzing their (epi)genotype-phenotype correlations. The differences observed in the phenotypic profiles of BWS molecular subtypes allow a composite view of this syndrome with implications on clinical care, diagnosis, follow-up, and management, and provide directions for future disease monitoring.
authors.affiliation: Department of Pediatrics and Public Health Sciences, University of Torino, Torino, Italy.
authors.forename: A
authors.identifier: http://orcid.org/0000-0003-2795-6013
authors.initials: A
authors.lastname: Mussa
authors.affiliation: Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Russo
authors.affiliation: Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.|Department of Health Sciences, University of Milan, Milan, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Larizza
authors.affiliation: DiSTABiF, Second University of Naples, Napoli, Italy.|Institute of Genetics and Biophysics "A. Buzzati-Traverso" - CNR, Naples, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Riccio
authors.affiliation: Department of Pediatrics and Public Health Sciences, University of Torino, Torino, Italy.
authors.forename: G B
authors.initials: GB
authors.lastname: Ferrero
keywords: (epi)genotype; Beckwith-Wiedemann; cancer predisposition; overgrowth; phenotype correlations