(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Cirillo Silengo, Lidia Larizza, Andrea RiccioGiovanni Battista Ferrero

Research output: Contribution to journalArticle

Abstract

Beckwith-Wiedemann syndrome (BWS) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly. BWS molecular defects, causing alteration of expression or activity of the genes regulated by two imprinting centres (IC) in the 11p15 chromosomal region, are also heterogeneous. In this paper we define (epi)genotype-phenotype correlations in molecularly confirmed BWS patients. The characteristics of 318 BWS patients with proven molecular defect were compared among the main four molecular subclasses: IC2 loss of methylation (IC2-LoM, n=190), IC1 gain of methylation (IC1-GoM, n=31), chromosome 11p15 paternal uniparental disomy (UPD, n=87), and cyclin-dependent kinase inhibitor 1C gene (CDKN1C) variants (n=10). A characteristic growth pattern was found in each group; neonatal macrosomia was almost constant in IC1-GoM, postnatal overgrowth in IC2-LoM, and hemihyperplasia more common in UPD (P

Original languageEnglish
Pages (from-to)183-190
Number of pages8
JournalEuropean Journal of Human Genetics
Volume24
Issue number2
DOIs
Publication statusPublished - Feb 1 2016

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Mussa, A., Russo, S., De Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Cubellis, M. V., Selicorni, A., Cirillo Silengo, M., Larizza, L., ... Ferrero, G. B. (2016). (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. European Journal of Human Genetics, 24(2), 183-190. https://doi.org/10.1038/ejhg.2015.88