Novel Mutation in MYH6 in 2 Unrelated Chinese Han Families With Familial Atrial Septal Defect

Yu Xia; Shaoxian Chen; Yongchao YangYueheng WuShufang HuangYonghua WangHong DingWanjun Heing LiJian Zhuang

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Novel Mutation in MYH6 in 2 Unrelated Chinese Han Families With Familial Atrial Septal Defect

机译：小说在MYH6突变在中国汉族2无关家庭与家族性心房中隔缺损

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The secundum atrial septal defect (ASD II, OMIM: 603642), accounting for 30% to 40% of all congenital heart malformations, is the most frequent subtype of congenital heart malformations in China.1 The anatomic feature of ASD II is an interatrial communication confined to the region of oval fossa, due to a deficiency of the primary atrial septum (septum primum) and the septum secundum (superior interatrial fold). Emerging evidence has implicated that gene mutations are responsible for the genetic cause of ASD II.2 Nevertheless, the genetic basis for ASD II remains elusive.

机译：603642年),占30%到40%先天性心脏畸形,是最先天性心脏的亚型在China.1畸形的解剖特征ASD II是一个房沟通局限椭圆形窝的地区,由于缺乏的主要房间隔(第一隔)和第二房间隔(高级房折叠)。新兴的证据牵连基因负责基因突变引起ASD ii . 2然而,ii .遗传基础II的遗迹elusive ASD。

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《Circulation. Genomic and precision medicine.》 |2019年第11期|e002732-e002732|共1页
作者
Yu Xia; Shaoxian Chen; Yongchao YangYueheng WuShufang HuangYonghua WangHong DingWanjun Heing LiJian Zhuang;
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Department of Cardiovascular Surgery of Guangdong Provincial Cardiovascular Institute;

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1. Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family [J] . Wei SU, Ruo-chen WANG, Mahesh Kumar Lohano, 当代医学科学(英文) . 2018,第006期
2. Device-related thrombosis on atrial septal defect occluder after simultaneous closure of left atrial appendage and atrial septal defect: a case report [J] . Lu HE, Ya-Juan DU, Ge-Sheng CHENG, 老年心脏病学杂志（英文版） . 2019,第006期
3. Síndrome de Wolff-Parkinson-White associada a comunicação interatrial tipo seio venoso Wolff-Parkinson-White syndrome and the sinus venosus atrial septal defect association [O] . Patrícia Lopes Moraes, Luíz Márcio Gerken, Bayard Gontijo Filho, 2005

机译：síndromede Wolff-parkinson-White associada，comunicaçãooctertrialtipo seio venoso Wolff-parkinson-White syndrome andan窦venosus atrial septal defect association

Novel Mutation in MYH6 in 2 Unrelated Chinese Han Families With Familial Atrial Septal Defect

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