In humans, MYRF is a key regulator of myelin development and is required for biosynthesis of oligodendrocytes; mutations in this gene are associated with a newly identified disorder, cardiac-urogenital syndrome, which is characterized by congenital heart defects including BAV (Bujalka et al., 2013; Rossetti et al., 2019). This evidence concerns the gene MYRF and Cardiac-urogenital syndrome.