一个染色体8p23.1缺失所致先天性心脏病家系的遗传学分析

目的明确1个先天性心脏病家系的遗传学病因,并探讨其可能的致病机制。方法联合应用G显带染色体核型、染色体微阵列分析(chromosomal microarray analysis,CMA)及多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)3种技术对本研究中患左室心肌致密化不全(left ventricular noncompaction,LVNC)的患者及其胎儿行遗传学检测。结果患者的核型结果为mos45,XY,rob(15;21)(q10;q10)36]/46,XY64],其胎儿的核型未见异常;患者及其胎儿的CMA检测结果均为arrhg19]8p23.1(11232919-11935465)×1。MLPA检出患者及其胎儿GATA4基因的7个外显子全部缺失。结论染色体8p23.1缺失是导致患者发生LVNC以及其胎儿发生室间隔缺损的原因,GATA4基因为关键致病基因。

Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion

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,XY64],while the fetus had an normal karyotype.CMA revealed that both had arrhg19]8p23.1(11232919-11935465)×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.