PITX2 loss-of-function mutation contributes to tetralogy of Fallot
详细信息 查看全文
- 作者：Yu-Min Suna ; Jun Wanga ; wang_jun98@sina.cn" class="auth_mail" title="E-mail the corresponding author ; Xing-Biao Qiub ; Fang Yuanb ; Ying-Jia Xub ; Ruo-Gu Lib ; Xin-Kai Qub ; Ri-Tai Huangc ; Song Xuec ; Yi-Qing Yangb ; d ; e ; dryyq@tongji.edu.cn" class="auth_mail" title="E-mail the corresponding author
- 关键词：CHD ; congenital heart disease ; TOF ; tetralogy of Fallot ; ASD ; atrial septal defect ; NCBI ; National Center for Biotechnical Information ; PCR ; polymerase chain reaction ; EVS ; Exome Variant Server ; SNP ; single nucleotide polymorphism ; ANF-luc ; atrial natriuretic factor-luciferase ; PLOD1 ; procollagen lysyl hydroxylase ; CHO ; Chinese hamster ovary
- 刊名：Gene
- 出版年：2016
- 出版时间：15 February 2016
- 年：2016
- 卷：577
- 期：2
- 页码：258-264
- 全文大小：839 K
文摘
- •
A novel PITX2 mutation (p.Q102L) was identified in a family with tetralogy of Fallot.
- •
The mutation co-segregated with tetralogy of Fallot with complete penetrance.
- •
The mutation was absent in 600 reference chromosomes.
- •
The mutant PITX2 had a significantly reduced transcriptional activity.
- •
The mutation markedly decreased the synergistic activation between PITX2 and NKX2-5.