Table 3 SMAD6 variant-positive patients with congenital heart disease.

From: SMAD6-deficiency in human genetic disorders

 

Tan et al.10

Jin et al.5

Gillis et al.4

Luyckx et al.7

Total

Left ventricular outflow tract

2/83 (2.4%)

3/797 (0.4%)

11/441 (2.5%)

3/65 (4.6%)

19/1386 (1.4%)

D-loop transposition of the Great Arteries

0/65 (0%)

1/251 (0.4%)

–

–

1/316 (0.3%)

Conotruncal defects

0/78 (0%)

3/872 (0.3%)

–

–

3/950 (0.3%)

Heterotaxy

0/10 (0%)

0/272 (0%)

–

–

0/282 (0%)

Others

0/200 (0%)

2/679 (0.3%)

–

–

2/879 (0.2%)

Total

2/436 (0.5%)

9/2871 (0.3%)

11/441 (2.5%)

3/65 (4.6%)

 
  1. This table excludes (1) patients with known disease-related genetic hits at other loci, in addition to SMAD6, and (2) case reports lacking information on the total number of screened patients.
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