title: Novel mutations of NODAL gene in Chinese patients with congenital heart disease.
abstract: Congenital heart disease (CHD) is one of most common birth defects threatening newborns' health. Over the past few decades, a variety of CHD-causing gene mutations have been identified, but the pathogenic mechanism of congenital heart disease is yet not very clear. The aim of this study was to identify potential pathologic mutations in the NODAL gene and to gain insight into the etiology of CHD. By using amplification with polymerase chain reaction and sequence analysis of NODAL in 800 patients with nonsyndromic CHD and 250 healthy controls, we identified 3 nonsynonymous variants. One of them was first identified in the present study. These variants were not observed in 250 controls. To our knowledge, this is the first study to suggest that NODAL may be involved in the etiology of nonsyndromic CHD in a Chinese population.
authors.affiliation: Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Sun
authors.forename: Longfei
authors.initials: L
authors.lastname: Cheng
authors.forename: Hanquan
authors.initials: H
authors.lastname: Dong
authors.forename: Binbin
authors.initials: B
authors.lastname: Wang
authors.forename: Guoying
authors.initials: G
authors.lastname: Huang
authors.forename: Zhongzhi
authors.initials: Z
authors.lastname: Li
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Xie
authors.forename: Adong
authors.initials: A
authors.lastname: Shen
authors.forename: Xiaotian
authors.initials: X
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D044466:Asian People / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D055457:Nodal Protein / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA
chemical_list: C526007:NODAL protein, human; D055457:Nodal Protein