Finally, upon screening patients with missense mutations in TAF1 who have congenital heart disease and neurodevelopmental defects, the most deleterious missense variants usually occurred within the functional domains of TAF1, including the N-terminal domain, TAF7-interacting domain, DNA-binding domain and BrD (in 12 of 16 cases) [49]. The gene discussed is TAF1; the disease is congenital heart disease.