The genetic cause of periodontal Ehlers-Danlos syndrome (EDS type VIII) found by UWCPD researchers

The Center for Precision Diagnostics researchers, in collaboration with Austrian, Swedish and UK geneticists, recently identified that the cause of the periodontal form of Ehlers-Danlos syndrome (EDS type VIII) results from a mutation in one of an unexpected pair of genes, C1S  or C1R.    Both genes dictate the synthesis of complement, a protein that plays a role in fighting infection and moving foreign cells out the cell.  Most other forms of EDS are caused by sequence variants in collagen proteins.  A C1S or C1R gene sequence abnormality leads to a dominant form of EDS type VIII , causing aggressive periodontitis and tooth loss at a young age.   The surprising discovery accomplished by exome sequencing research is opening the door to learn how the disease progresses, a necessary step for considering treatment.  Read the details of the research in the American Journal of Human Genetics.