Variants in VCAN have been reported in multiple families affected by autosomal dominant Wagner disease since 2005 (Miyamoto et al., PMID 16043844). At least six splicing variants in intron 7 (transcript NM_004385.5) have been reported in humans, often in large families segregating perfectly with the disease. More evidence including additional splicing variants in intron 7 and large deletions involving exon 8 is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease association is further supported by expression studies showing that VCAN is expressed in the eye. In summary, VCAN is definitively associated with autosomal dominant Wagner disease.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.