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Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission

机译:KCNQ1基因第二个内含子内的遗传变异会影响CTCF结合并在母体传播时带来Beckwith-Wiedemann综合征风险

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Background Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS; MIM 130650) and the Silver-Russell (SRS; MIM 180860) syndromes. DNA methylation defects account for 60% of BWS and SRS cases and, in most cases, occur without any identified mutation in a cis-acting regulatory sequence or a transacting factor.
机译:背景11p15印迹的破坏导致两种具有相反表型的胎儿生长障碍:Beckwith-Wiedemann(BWS; MIM 130650)和Silver-Russell(SRS; MIM 180860)综合征。 DNA甲基化缺陷占BWS和SRS病例的60%,并且在大多数情况下,其顺式作用调控序列或交易因子中未发现任何突变。

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