Fifirig Claudia-Ioana, Abraham Sabu, Keavney Bernard, Hentges Kathryn E
BHF Manchester Centre of Research Excellence, Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom.
BHF Manchester Centre of Research Excellence, Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom.
Front Genet. 2025 Mar 19;16:1535732. doi: 10.3389/fgene.2025.1535732. eCollection 2025.
Congenital heart disease (CHD) is the most common type of birth defect and results from anomalies in the cardiogenesis process. There are multiple genetic mechanisms contributing to CHD, including copy number variants (CNVs). One such CNV is the 15q11.2 (BP1-BP2) microdeletion, which contains four evolutionarily conserved genes: , , and . The deletion causes a syndrome which includes developmental delays and multiple anatomical malformations including CHD. The link between the 15q11.2 (BP1-BP2) microdeletion and CHD has been previously described in the literature but not explored in terms of mechanistic investigations. The characteristics of the BP1-BP2 deletion also prove challenging in the context of genetic counselling. Here we discuss the 15q11.2 (BP1-BP2) microdeletion syndrome with a focus on CHD.
先天性心脏病（CHD）是最常见的出生缺陷类型，由心脏发生过程中的异常引起。导致CHD的遗传机制有多种，包括拷贝数变异（CNV）。其中一种CNV是15q11.2（BP1-BP2）微缺失，它包含四个进化上保守的基因： 、 、 和 。这种缺失会导致一种综合征，包括发育迟缓以及包括CHD在内的多种解剖学畸形。15q11.2（BP1-BP2）微缺失与CHD之间的联系此前已在文献中有所描述，但尚未从机制研究方面进行探讨。在遗传咨询的背景下，BP1-BP2缺失的特征也颇具挑战性。在此，我们将重点讨论15q11.2（BP1-BP2）微缺失综合征与CHD。
