Why the study?
To explore the genetic basis for a family affected with congenital heart defects.
The study identifies an 8p23.1 deletion involving the GATA4 gene as the likely genetic cause for familial congenital heart defects including LVNC and VSD.
Answers are grounded in this paper and cite their sources.
May implicate GATA4 deletion in familial LVNC and VSD; hypothesis-generating and requires confirmation before broader clinical use.
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.
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Feng et al. (2020) studied this question.
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