PUF60 and 8q24.3 microdeletion syndrome: Heterozygous loss-of-function variants in PUF60 have been associated with Verheij syndrome (VRJS, OMIM#615583) since the first report of an 8.35 Mb deletion at the genetic location 8q24 with the key features of coloboma, congenital cardiac defects, neurodevelopmental delay, seizures, short stature, and skeletal anomalies [11].