Psuedoxanthoma elasticum [PXE] is caused by mutations in the ABCC6 gene. There are many mutations in the gene, a few are common mutations, but most are rare – sometimes unique to one family. It is important to catalogue all of the mutations for both research and clinical care.
A catalogue of mutations can be used by researchers to understand where on the gene the mutations occur, and what effect the mutation has on the protein that is produced by the gene.
This same catalogue can be used by healthcare providers. The genetic test results will show if there are changes in the ABCC6 gene. The healthcare provider (usually a genetics specialist at GeneDx, the lab in the US that has a license to the test) can look in the database and see if the changes are in the catalogue, and to understand if the changes are disease causing. Some changes in the gene are not disease causing (called polymorphisms), so it is important to have a catalogue with other information in it in order to determine if the change is a disease causing mutation.
This was so important that PXE International took the lead and created a database of all of the published mutations. This was done in a very productive partnership with the National Center for Biotechnology Information, Timothy Hefferon at National Human Genome Research Institute, NIH, and the Laboratory of András Váradi at the Institute of Enzymology Hungarian Academy of Sciences, Budapest. We continue to work on the database and are now working to make it a useful model for other diseases. You can find it here:
Access the Mutation Database
The NCBI LOVD site was retired on September 30, 2016, and all data are being migrated to ClinVar.
ClinVar can be found at: https://www.ncbi.nlm.nih.gov/clinvar/
Tutorial video for nagivating ClinVar (~6 minutes): https://www.youtube.com/watch?v=A8G3ej83ZgU&feature=youtu.be
If you would like a copy of all exported data from LOVD, please email Eliza Duvall at email@example.com.