Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

被引：0
作者：
I. M. Krzyzewska
M. Alders
S. M. Maas
J. Bliek
A. Venema
P. Henneman
F. I. Rezwan
K. v. d. Lip
A. N. Mul
D. J. G. Mackay
M. M. A. M. Mannens
机构：
[1] Amsterdam UMC,Faculty of Medicine
[2] University of Amsterdam,undefined
[3] Department of Clinical Genetics,undefined
[4] Amsterdam Reproduction & Development,undefined
[5] Amsterdam UMC,undefined
[6] University of Amsterdam,undefined
[7] Department of Pediatrics,undefined
[8] University of Southampton,undefined
来源：
Clinical Epigenetics | 2019年 / 11卷
关键词：
BWS; MLID; DNA-methylation; Imprinting disorders;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is possible in approximately 85% of the cases, whereas in the remaining 15% of the cases, the underlying defect remains unclear. The goal of our research was to identify new epigenetic loci related to BWS. We studied a group of 25 patients clinically diagnosed with BWS but without molecular conformation after DNA diagnostics and performed a whole genome methylation analysis using the HumanMethylation450 Array (Illumina).
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