腭心面综合征研究进展

Recent advances on pathological mechanism of velo-cardio-facial syndrome

腭心面综合征(velo-cardio-facial syndrome,VCFS)是人类常见的染色体缺失综合征之一,缺失基因大多定位于22q染色体长臂的22q11.21～q11.23区。其复杂临床表现集中体现在颅面、心脏、免疫、腺体等方面的发育性畸形,作者就其临床表现、发病机制、候选基因及其相关作用通路的最近研究进展做一综述。

Velo-cardio-facial syndrome （VCFS） is the most common interstitial microdeletion syndrome with the molecular genetic basis.Most candidate genes are located in chromosome 22q11.21（del.22q11.23）.Clinical findings are sophisticated ,but mainly focused on characteristic facial appearance, velopharyngeal dysfunction, congenital heart defects（CHD）,immunodeficiency resulting from thynfic hypoplasia. Some candidate genes in different molecular pathways , clinical findings, mismatched homologous elements （LCRs）,which lead to the deletion of 22q11.21 were reviewed in this paper.