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Childhood obesity is mostly multifactorial, although a proportion of cases have a highly penetrant genetic aetiology. Identifying a genetic cause of childhood obesity can have important implications for patients and relatives.
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with widely variable clinical phenotype that attenuates with age.1 Proposed criteria to warrant its clinical suspicion are the presence of at least three major, or two major plus one minor, features (table 1). Early diagnosis of BWS is relevant because of the increase in risk for malignancies (Wilms tumour and hepatoblastoma). Periodical abdominal ultrasonographic survey and plasma α fetoprotein level determination during infancy and childhood must be done.1 ,2
Various genetic and epigenetic aberrations affecting the imprinted 11p15.5 locus can cause BWS, by downregulation of maternally expressed genes and/or upregulation of paternally expressed genes (figure 1A).3 The most common defects are the loss of methylation at IC2 (50%), uniparental paternal disomy at 11p15.5 (20%), gain of methylation at IC1 (5%) and point mutations in the maternal allele of CDKN1C. Duplications, inversions or …