Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome.

Hsiang-Yu LinChung-Lin LeeSisca FranRu-Yi TuYa-Hui ChangDau-Ming NiuChia-Ying ChangPao Chin ChiuYen-Yin ChouHui-Pin HsiaoChia-Feng Yang Meng-Che TsaiTzu-Hung ChuChih-Kuang ChuangShuan-Pei Lin

Published in: Journal of personalized medicine (2021)

Lower IC2 methylation and higher IC1 methylation levels were associated with greater disease severity in the subjects with clinically diagnosed BWS. Quantitative DNA methylation analysis using the MassARRAY assay could improve the detection of epigenotype-phenotype correlations, which could further promote better genetic counseling and medical care for these patients.

Keyphrases

dna methylation
genome wide
end stage renal disease
gene expression
copy number
chronic kidney disease
ejection fraction
high resolution
newly diagnosed
peritoneal dialysis
high throughput
loop mediated isothermal amplification
smoking cessation
patient reported outcomes
patient reported
hiv infected
hiv testing