Testing patient III:1, no variants were identified within the coding sequence of a panel of 15 known EDS-related genes (ADAMTS2, ATP7A, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FKBP14, FLNA, P3H1, PLOD1, SLC39A13). The gene discussed is P3H1; the disease is Ehlers-Danlos syndrome.