Duplication and deletion of CFC1 associated with heterotaxy syndrome.
Duplication and deletion of CFC1 associated with heterotaxy syndrome.
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DOI：
10.1089/dna.2014.2616
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发表时间：
2015-02
影响因子：
3.1
通讯作者：
Ruixue Cao;Fei Long;Liping Wang;Yuejuan Xu;Ying Guo;Fen Li;Sun Chen;K. Sun;Rang Xu
中科院分区：
文献类型：
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作者：
Ruixue Cao;Fei Long;Liping Wang;Yuejuan Xu;Ying Guo;Fen Li;Sun Chen;K. Sun;Rang Xu
内脏异位综合征是一类先天性疾病，其导致显著的发病率和死亡率，其中正常的左右不对称不能被适当地建立。为了探讨拷贝数变异（CNVs）在异位综合征发生中的作用，我们招募了93名异位患者，并通过Affyellow全基因组人类SNP 6.0阵列研究了其中12名患者。其余81名患者和500名健康儿童通过定量实时聚合酶链反应（qPCR）证实了结果。SNP6.0阵列分析显示染色体2q21.1的重复，这通过qPCR验证。另81例患者qPCR检测结果显示8例患者的CNVs位于2q21.1，且这些患者中唯一的重叠基因是CFC 1。然而，在500名健康儿童中，只有一名携带CFC 1重复（p=3.5×10（-7））。CFC 1基因的重复和缺失可能在异位综合征的发生中起重要作用。此外，大动脉转位、右心室双出口、单心房和单心室可能与异位综合征有共同的遗传病因。
Heterotaxy syndrome, which causes significant morbidity and mortality, is a class of congenital disorders, in which normal left-right asymmetry cannot be properly established. To explore the role of copy number variants (CNVs) in the occurrence of heterotaxy syndrome, we recruited 93 heterotaxy patients and studied 12 of them by the Affymetrix Genome-Wide Human SNP 6.0 Array. The results were confirmed in the remaining 81 patients and 500 healthy children by quantitative real-time polymerase chain reaction (qPCR). The analysis of the SNP6.0 array showed a duplication of chromosome 2q21.1, which was verified by qPCR. The result of qPCR in the other 81 patients showed that 8/81 patients had the CNVs of 2q21.1 and the only overlapping gene in these patients is CFC1. However, in the 500 healthy children, only one carried the duplication of CFC1 (p=3.5×10(-7)). The duplication and deletion of CFC1 may play key roles in the occurrence of heterotaxy syndrome. Moreover, the transposed great arteries, double outlet right ventricle, single atrium, and single ventricle may share a common genetic etiology with the heterotaxy syndrome.