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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 …
Contributors GAMM, CS-J, contributed equally to the manuscript. GÁM-M wrote the first draft of the manuscript and he was in charge of controlling the patients; CS-J undertook the genetic studies; LAP-J and JA developed the intellectual idea, provided the funds to undertake the study, analysed the results and read and edited the manuscript.
Funding Fondo de Investigación Sanitaria (FIS PI10/00747 and PI13/02195 to JA, PI10/02512 and PI13/02481 to LAP-J, CIBERobn and CIBERER) and Catalan Department of Economy and Knowledge (2009SGR1274 and ICREA Acadèmia, to LAP-J).
Competing interests None.
Patient consent Obtained.
Ethics approval Ethical Committee University Hospital Niño Jesús.
Provenance and peer review Not commissioned; externally peer reviewed.