Furthermore, a Sanger sequencing assay of the whole coding region of the SOX4 gene was also conducted in another cohort of 196 unrelated patients with idiopathic AF, which unveiled a heterozygous SOX4 mutation of NM_003107.3: c.290G>A; p.(Trp97*) in one female patient aged 47 years with no family history of AF, who also had delayed intellectual development, bilateral 5th finger clinodactyly, and dysplastic 5th toenails, as well as mild facial dysmorphisms characteristic of upturned nares and a wide mouth with cupid bow. The gene discussed is SOX4; the disease is atrial fibrillation.