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Beckwith–Wiedemann syndrome (BWS) is an overgrowth malformation syndrome that maps to human chromosome 11p15.5, a region that harbours a number of imprinted genes. We studied the methylation status of  H19  and  KCNQ1OT1  ( LIT1 / KvDMR1 ) in a large series of BWS patients. Different patient groups were identified: group I patients (20%) with uniparental disomy and hence aberrant methylation of  H19  and  KCNQ1OT1 ; group II patients (7%) with a BWS imprinting centre 1 (BWSIC1) defect causing aberrant methylation of  H19  only; group III patients (55%) with a BWS imprinting centre 2 (BWSIC2) defect causing aberrant methylation of  KCNQ1OT1  only; and group IV patients (18%) with normal methylation patterns for both  H19  and  KCNQ1OT1 . BWS patients have an increased risk of developing childhood tumours. In our patient group, out of 31 patients (group III) with  KCNQ1OT1  demethylation only, none developed a tumour. However, tumours were found in 33% of patients with  H19  hypermethylation (group I and II) and in 20% of patients with no detectable genetic defect (group IV). All four familial cases of BWS showed reduced methylation of  KCNQ1OT1 , suggesting that in these cases the imprinting switch mechanism is disturbed.

human molecular genetics

Increased tumour risk for BWS patients correlates with aberrant  H19  and not  KCNQ1OT1  methylation: occurrence of  KCNQ1OT1  hypomethylation in familial cases of BWS