Through global identification of PUF60-regulated exons, we have recently characterized splicing abnormalities in cells overexpressing PUF60 that contained germ-line RRM missense mutations [14] found in Verheij syndrome (also known as or PUF60 deficiency, PD, or 8q24.3 microdeletion syndrome) [19,20]. The gene discussed is PUF60; the disease is syndrome caused by partial chromosomal deletion.