关键词： 22q11.2 deletion syndrome CHARGE syndrome CHD7 Congenital heart disease DiGeorge syndrome Diabetic mother GATA transcription factors GATA4GATA binding protein (GATA)GATA4 GATA6GATA binding protein (GATA)GATA6 NKX transcription factors NKX2-5 NKX2-6 Neural crest cells PLXNA2 SEMA3CSemaphorin (SEMA)SEMA3C Second heart field TBX transcript TBX1 Tetralogy of Fallot VACTERL syndrome

Mesh ： Humans Truncus Arteriosus, Persistent / genetics Transcription Factors / genetics metabolism Truncus Arteriosus / metabolism DiGeorge Syndrome / genetics T-Box Domain Proteins / genetics metabolism Genetic Predisposition to Disease / genetics

来  源：   DOI：10.1007/978-3-031-44087-8_51

Abstract：
Integrated human genetics and molecular/developmental biology studies have revealed that truncus arteriosus is highly associated with 22q11.2 deletion syndrome. Other congenital malformation syndromes and variants in genes encoding TBX, GATA, and NKX transcription factors and some signaling proteins have also been reported as its etiology.
摘要：
整合的人类遗传学和分子/发育生物学研究表明，动脉干与22q11.2缺失综合征高度相关。其他先天性畸形综合征和编码TBX的基因变异，GATA,和NKX转录因子和一些信号蛋白也被报道为其病因。
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