In our previous studies, we found that TBX6 gene contributes to about 10% of CS patients with a compound inheritance disease‐causing mode, that is, a TBX6 null mutation or 16p11.2 deletion in trans with a common T‐C‐A (rs2289292, rs3809624, and rs3809627) haplotype (Liu et al., 2019; Wu et al., 2015; Yang et al., 2019). The gene discussed is TBX6; the disease is Cowden syndrome 1.