Two novel mutations of the IRX4 gene in patients with congenital heart disease

被引：34

作者：

Cheng, Zhi ^{[1
,3
]}

Wang, Jing ^{[1
,3
]}

Su, Dongmei ^{[1
]}

Pan, Hong ^{[1
]}

Huang, Guoying ^{[4
]}

Li, Xiaotian ^{[4
]}

Li, Zhongzhi ^{[5
]}

Shen, Adong ^{[5
]}

Xie, Xiaodong ^{[6
]}

Wang, Binbin ^{[1
,3
]}

Ma, Xu ^{[1
,2
,3
]}

机构：

[1] Natl Res Inst Family Planning, Ctr Genet, Beijing 100081, Peoples R China

[2] WHO, Collaborating Ctr Res Human Reprod, Beijing, Peoples R China

[3] Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China

[4] Fudan Univ, Pediat Heart Ctr, Childrens Hosp, Shanghai 200433, Peoples R China

[5] Capital Med Univ, Publ Cent Lab, Beijing Pediat Inst, Beijing Childrens Hosp, Beijing, Peoples R China

[6] Lanzhou Univ, Sch Life Sci, Lanzhou 730000, Peoples R China

来源：

HUMAN GENETICS | 2011年 / 130卷 / 05期

关键词：

IROQUOIS-FAMILY; EXPRESSION; MICE; CARDIOMYOPATHY; MORPHOGENESIS; DEFECTS; NKX2-5; TBX5;

D O I：

10.1007/s00439-011-0996-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

IRX4 was the first identified cardiac transcription factor that is restricted to the ventricles at all stages of heart development. Irx4-deficient mice show ventricular dysfunction and develop cardiomyopathy. To study the potential impact of sequence variations in IRX4 on congenital heart disease (CHD) in humans, we examined the coding region of IRX4 in a cohort of 698 Chinese people with congenital heart disease and 250 healthy individuals as the controls. We found two potential disease-causing mutations, p. Asn85Tyr and p. Glu92Gly. A mammalian two-hybrid assay showed that both of the mutations significantly affected the interaction between IRX4 and RXRA. It demonstrated that IRX4 had a potential causative impact on the development of congenital heart disease, particularly ventricular septal defect.

引用

页码：657 / 662

页数：6

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