PUF60 and familial atrioventricular septal defect: All five patients had in common a 78-kb deleted region containing three genes: SCRIB, NRBP2 and PUF60. A further patient with a missense variant in PUF602 and a foetus with an 8q24.3 deletion encompassing PUF60 occurring in association with an atrioventricular septal defect, a hypoplastic aortic arch, facial dysmorphism and other anomalies3 strongly implicated this single gene as the cause of the phenotype.