没有证据表明 ZFP57 变异或母系效应是造成贝克威斯德姆综合征的原因。
No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.
机构信息
Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark.
出版信息
Eur J Hum Genet. 2012 Jan;20(1):119-21. doi: 10.1038/ejhg.2011.140. Epub 2011 Aug 24.
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations of the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some. The aim of our study was to determine whether ZFP57 alterations were a genetic cause of the hypomethylation at KCNQ1OT1 DMR in patients with BWS. We sequenced ZFP57 in 27 BWS probands and in 23 available mothers to test for a maternal effect. We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases.
贝-威二氏综合征（BWS）是一种过度生长综合征，在 50-60%的散发性病例中，是由 11p15.5 染色体上 KCNQ1OT1 差异甲基化区域（DMR）的低甲基化引起的。这种低甲基化的根本缺陷尚不清楚。最近，在患有 1 型短暂性新生儿糖尿病的患者中报道了 ZFP57 基因的隐性突变，这些患者在多个印记基因座表现出低甲基化，包括 KCNQ1OT1 DMR。我们研究的目的是确定 ZFP57 改变是否是 BWS 患者 KCNQ1OT1 DMR 低甲基化的遗传原因。我们对 27 名 BWS 先证者和 23 名可利用的母亲进行了 ZFP57 测序，以检测母体效应。我们在 ZFP57 中发现了三个新的、可能是良性的序列变异；因此，我们没有发现 ZFP57 改变是散发性 BWS 病例的主要原因。
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