The canonical splice site variant NM_004385.5:c.4004-2A>G in VCAN, found in this study, was previously reported only in two families [44,45], while, based on the HGMD records, splicing mutations in intron 7 and 8 as well as deletions of the entire exon 8 or of its part are the main causes of Wagner syndrome. This evidence concerns the gene VCAN and Wagner disease.