Genetic Diagnosis of Beckwith Wiedemann Syndrome using Methylation Specific PCR-RFLP Method.
- Author:
Gu Hwan KIM
1
;
Jin Joo LEE
;
Seung Hoon CHOI
;
Joo Yeon LEE
;
Beom Hee LEE
;
Han Wook YOO
Author Information
1. Medical Genetics Center, Asan Medical Center Children's Hospital, Seoul, Korea. hwyoo@amc.seoul.kr
- Publication Type:Original Article
- Keywords:
Beckwith-Wiedemann syndrome;
Methylation;
Genetic testing;
RFLP;
BWSIC1;
BWSIC2;
LIT1
- MeSH:
Beckwith-Wiedemann Syndrome;
DNA;
Genetic Testing;
Humans;
Karyotype;
Karyotyping;
Leukocytes;
Mass Screening;
Methylation;
Polymerase Chain Reaction;
Polymorphism, Restriction Fragment Length
- From:Journal of Genetic Medicine
2010;7(2):133-137
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
