Searchable abstracts of presentations at key conferences in endocrinology

ea0027oc3.4 | Oral Communications 3 | BSPED2011

The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith–Wiedemann syndrome due to KvDMR1 hypomethylation

Ismail Dunia , Shipster Caroleen , Beesley Clare , Hussain Khalid

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic and genetic changes. It is due to genetic and epigenetic mechanisms affecting the balance of imprinted genes on chromosome 11p15.5. This region has two imprinted control regions, ICR1 and ICR2. ICR1 contains the genes H19 and IGF2 genes with H19 being maternally expressed and IGF2 paternally expressed. ICR2 contains the KCNQ1, KCNQ1OT1, and CDKN1C genes. Hypomethylation of KvDMR1 (an...