TY - JOUR
T1 - (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
AU - Mussa, Alessandro
AU - Russo, Silvia
AU - De Crescenzo, Agostina
AU - Freschi, Andrea
AU - Calzari, Luciano
AU - Maitz, Silvia
AU - Macchiaiolo, Marina
AU - Molinatto, Cristina
AU - Baldassarre, Giuseppina
AU - Mariani, Milena
AU - Tarani, Luigi
AU - Bedeschi, Maria Francesca
AU - Milani, Donatella
AU - Melis, Daniela
AU - Bartuli, Andrea
AU - Cubellis, Maria Vittoria
AU - Selicorni, Angelo
AU - Cirillo Silengo, Margherita
AU - Larizza, Lidia
AU - Riccio, Andrea
AU - Ferrero, Giovanni Battista
PY - 2016/2/1
Y1 - 2016/2/1
N2 - 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
AB - 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
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U2 - 10.1038/ejhg.2015.88
DO - 10.1038/ejhg.2015.88
M3 - Article
AN - SCOPUS:84954404387
SN - 1018-4813
VL - 24
SP - 183
EP - 190
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 2
ER -