Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography

TSUNG-HSIEN LEE2026-10-162026-10-162008-10-01Pure ID: 15088932Pure UUID: f3831fe0-e355-43c2-b406-6ba901db24e310.1016/j.fertnstert.2007.10.075https://www.scopus.com/pages/publications/52949112309https://scholars.csmu.edu.tw/handle/123456789/32754We described a simplified and high-performance test (E-Q-PCR) for rapid assessment of the DNA methylation status at LIT1, a major genetic locus of Beckwith-Wiedemann syndrome (BWS). The E-Q-PCR test can detect and quantify the methylation changes between BWS fetuses and unaffected individuals in aminocytes as well as in lymphocytes and can be completed in 1 working day, and thus is a useful method for prenatal molecular diagnosis of BWS.4enRapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonographyjournal article