J Genet Med.  2010 Dec;7(2):133-137.

Genetic Diagnosis of Beckwith Wiedemann Syndrome using Methylation Specific PCR-RFLP Method

  • 1Medical Genetics Center, Asan Medical Center Children's Hospital, Seoul, Korea. hwyoo@amc.seoul.kr
  • 2Department of Pediatrics, Asan Medical Center Children's Hospital, Seoul, Korea.


Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome caused by a methylation abnormality at chromosome 11p15, consisting of two imprinting centers, BWSIC1 (IGF2, H19) and BWSIC2 (LIT1, KvDMR). This study evaluated the applicability of a methylation-specific (MS) PCR RFLP method for the genetic diagnosis of BWS.
A total of 12 patients were recruited based on clinical findings. Karyotyping was performed using peripheral blood leukocytes, and genomic DNA was treated with bisulfate and amplified using methylation-specific primers. RFLP was conducted with restriction enzymes in differentially methylated regions of LIT1, H19, and IGF2.
The 12 BWS patients had normal karyotypes. Abnormal methylation patterns in the BWSIC2 (LIT1) region were identified in seven patients (58.3%) using the MS-PCR RFLP method.
The MS-PCR RFLP method is a simple, economical genetic test. It detected genetic abnormalities in 50-60% of BWS patients, suggesting that it can be used as a screening test. A more precise method is required, however, to enhance the detection rate of genetic abnormalities, especially in BWSIC1 region.


Beckwith-Wiedemann syndrome; Methylation; Genetic testing; RFLP; BWSIC1; BWSIC2; LIT1
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