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

VernacularTitle: 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
Author: Qing FENG ¹ ; Jiansheng XIE ; Yang LIU ; Qian GENG ; Weiqing WU
Author Information

1. Shenzhen Maternal and Child Health Care Hospital Affiliated to Southern Medical University, Shenzhen, Guangdong 518017, China
Publication Type:Clinical Trail
Keywords: 8p23.1 deletion; GATA4 gene; Left ventricular noncompaction; Ventricular septal defect
From: Chinese Journal of Medical Genetics 2020;37(1):44-47
CountryChina
Language:Chinese
Abstract: 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.