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Table 1 Summary of the CHD family

From: A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

CHD Family membersCHDAge at diagnosisHeart defects according to transthoracic echocardiogramTAB2
DNAProtein
II:1Yes39yatrial septal aneurysm, left coronary artery dilation, mild aortic regurgitationc.C446Gp.S149X
II:3No36y
II:5Yes31ymild mitral and tricuspid regurgitation, mild aortic valve stenosis with aortic regurgitationc.C446Gp.S149X
II:6No32y
II:7Yes30yatrial septal aneurysm, mild mitral valves prolapse with mitral regurgitation, mild pulmonic regurgitationc.C446Gp.S149X
II:8No31y
II:9Yes29yatrial septal aneurysm, left atrial and ventricular dilatationc.C446Gp.S149X
III:3No12y
III:4No11y
III:5No3y
III:9No2y
III:10High risk19w pregnancyc.C446Gp.S149X
III:11Yes3ymild left ventricular and right atrial dilation, mild mitral valves prolapse with mitral regurgitationc.C446Gp.S149X
III:13No1y
  1. CHD Congenital heart defect, y Years old, w Weeks; “-”, no defect or mutation detected