PTPN11 and Pulmonic stenosis: The proband in family 3 was a 3-year-old male with pulmonary stenosis (PS) and patent foramen ovale (PFO) and carried a PTPN11 c.188A>G (p.Y63C) variant which was exceedingly rare (MAF = 5.43656E − 05 in gnomAD_genome_EAS) and predicted to be deleterious (CADD = 28.1, SIFT = D, Polyphen2 = D), involving acid amino Tyr-to-Cys substitution at position 63.