[8号染色体p23.1缺失所致先天性心脏病家族的遗传学分析]
[Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion].
作者信息
Feng Qing, Xie Jiansheng, Liu Yang, Geng Qian, Wu Weiqing
机构信息
Shenzhen Maternal and Child Health Care Hospital Affiliated to Southern Medical University, Shenzhen, Guangdong 518017, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):44-47. doi: 10.3760/cma.j.issn.1003-9406.2020.01.012.
OBJECTIVE
To explore the genetic basis for a family affected with congenital heart defects.
METHODS
G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.
RESULTS
G-banding karyotyping showed the patient was 45,XY,rob(15;21)(q10;q10)[36]/46,XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene.
CONCLUSION
The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.
目的
探究一个患有先天性心脏缺陷的家族的遗传基础。
方法
对一名左心室致密化不全（LVNC）患者及其胎儿进行G显带核型分析、染色体微阵列分析（CMA）和多重连接依赖探针扩增（MLPA），以检测拷贝数变异。
结果
G显带核型分析显示患者为45，XY，rob(15;21)(q10;q10)[36]/46，XY[64]，而胎儿核型正常。CMA显示两人均有arr[hg19]8p23.1(11 232 919-11 935 465)×1。MLPA显示两人均有GATA4基因所有外显子的缺失。
结论
患者的LVNC及其胎儿的室间隔缺损（VSD）可能由相同的8p23.1缺失导致，GATA4可能是关键基因。
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