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Cardiac septal defects constitute the majority of congenital heart disease (CHD) in humans and familial recurrence is reported to exceed 5%[Burn et al., 1998]. Previously, mutations in GATA4 and NKX2. 5 have been described to be pathogenic for ostium secundum atrial septal defects (ASDII) and ventricular septal defects (VSD)[Schott et al., 1998; Garg et al., 2003]. In contrast, CRELD1 and BMP4 constitute functional candidates for regular development of the endocardial cushion and mutations in these genes cause atrioventricular septal defects (AVSD) in animal models and humans [Jiao et al., 2003; Robinson et al., 2003]. We hypothesized that mutations in GATA4 (NM_002052), NKX2. 5 (NM_004387), CRELD1 (NM_015513), and BMP4 (NM_001202) can be identified in a large cohort of patients with congenital septal defects with a focus on ASDII. We analyzed the coding region of these four genes in 205 …