A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects.
A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects.
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DOI：
10.1371/journal.pone.0072515
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Xu R
中科院分区：
文献类型：
--
作者：
Long F;Wang X;Fang S;Xu Y;Sun K;Chen S;Xu R
目的探讨1例产前筛查正常的先天性心脏病患者的发病机制。在常规产前筛查中，对该家系进行G显带核型分析，并采用荧光原位杂交技术对胎儿进行22q11.2缺失检测。出生后，经胸超声心动图检查发现孩子患有心脏缺陷。在接下来的研究中，测序被用来寻找关键基因中的潜在突变。利用SNP芯片对异常区域进行精细定位，并采用实时荧光定量PCR对结果进行验证。此外，对具有相似表型的其他患者进行了相同遗传变异的筛查。为了与对照组进行比较，还在一般人群中评估了这些变化。这个孩子和他的母亲都有一个区域在β-防御素重复序列中被删除，而这通常在普通人群中重复。此外，该儿童携带SOX 7基因重复。虽然在他的母亲中没有检测到这种重复，但在另外两名心脏缺陷患者中发现了这种重复，他们也在β-防御素重复序列中有类似的缺失。该儿童的先天性心脏缺陷可能是由SOX 7基因重复引起的，这可能是β-防御素区域8p23.1的部分单倍型的结果。据我们所知，这是第一例发现具有β-防御素单倍型和SOX 7重复的先天性心脏病病例。
To determine the pathogenesis of a patient born with congenital heart defects, who had appeared normal in prenatal screening. In routine prenatal screening, G-banding was performed to analyse the karyotypes of the family and fluorescence in situ hybridization was used to investigate the 22q11.2 deletion in the fetus. After birth, the child was found to be suffering from heart defects by transthoracic echocardiography. In the following study, sequencing was used to search for potential mutations in pivotal genes. SNP-array was employed for fine mapping of the aberrant region and quantitative real-time PCR was used to confirm the results. Furthermore, other patients with a similar phenotype were screened for the same genetic variations. To compare with a control, these variations were also assessed in the general population. The child and his mother each had a region that was deleted in the beta-defensin repeats, which are usually duplicated in the general population. Besides, the child carried a SOX7-gene duplication. While this duplication was not detected in his mother, it was found in two other patients with cardiac defects who also had the similar deletion in the beta-defensin repeats. The congenital heart defects of the child were probably caused by a SOX7-gene duplication, which may be a consequence of the partial haplotype of beta-defensin regions at 8p23.1. To our knowledge, this is the first congenital heart defect case found to have the haplotype of beta-defensin and the duplication of SOX7.
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