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首页> 外文OA文献 >Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)
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Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

机译：靶向阵列比较基因组杂交（阵列CGH）可确定与孤立的先天性diaphragm肌疝（CDH）相关的基因组失衡

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OBJECTIVE: Congenital diaphragmatic hernia (CDH) is a congenital birth defect affecting around 1/3000 births. We propose that a significant number of isolated CDH cases have an underlying genetic cause, and that a subset of these result from copy number variations (CNVs) identifiable by array CGH. METHODOLOGY: We have designed a custom array targeted at genes and genomic loci associated with CDH. A total of 79 isolated CDH patients were screened using this targeted array. RESULTS: In three patients, we detected genomic imbalances associated with the observed diaphragmatic hernia; a deletion of 8p22-p23.3, 14.2 Mb in size, a 340 kb duplication of Xq13.1 including the ephrin-B1 gene (EFNB1), and mosaicism for trisomy 2. CONCLUSION: Using this approach, we detected genomic imbalances associated with CDH in 3/79 (4%) isolated CDH patients. Our findings further implicate 8p deletions as being associated with CDH. The duplication of EFNB1 further highlights this gene as a potential candidate involved in diaphragm development. Mosaicism for trisomy 2 is a rare event and unlikely to be a common cause of CDH. Further investigations of isolated CDH patients by array CGH will continue to identify novel submicroscopic loci and refine genomic regions associated with CDH. Copyright © 2010 John Wiley & Sons, Ltd.
机译：目的：先天性diaphragm肌疝（CDH）是一种先天性先天性缺陷，影响约1/3000的分娩。我们建议大量孤立的CDH病例具有潜在的遗传原因，并且其中的一部分来自阵列CGH可识别的拷贝数变异（CNV）。方法：我们设计了针对CDH相关基因和基因组位点的定制阵列。使用该靶向阵列筛选了总共79名孤立的CDH患者。结果：在三例患者中，我们检测到与观察到的diaphragm肌疝相关的基因组失衡。删除了8p22-p23.3，大小为14.2 Mb，包括ephrin-B1基因（EFNB1）在内的Xq13.1重复了340 kb，以及三体性2的镶嵌。结论：使用这种方法，我们检测到了与3/79（4％）孤立的CDH患者中的CDH。我们的发现进一步暗示8p缺失与CDH相关。 EFNB1的重复进一步突出了该基因作为参与隔膜发育的潜在候选基因。三体性2的镶嵌术是罕见的事件，不太可能是CDH的常见原因。通过阵列CGH对孤立的CDH患者的进一步研究将继续鉴定新的亚显微基因座并完善与CDH相关的基因组区域。版权所有©2010 John Wiley＆Sons，Ltd.

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