The proband in family 8 was a 10-year-old male with PFO, who carried a PTPN11 c.922A>G (p.N308D) variant, which was a rare missense variant showing high deleteriousness (CADD = 23.6, SIFT = D, Polyphen2 = B) and validated to be de novo. The gene discussed is PTPN11; the disease is Patent foramen ovale.