2025: KLK15 published as a candidate gene for hEDS
eventevidence: emergingone underlying source
In August 2025 the Norris Lab and colleagues published whole-exome work in iScience implicating kallikrein (KLK) gene variants in hEDS: a recurrent KLK15 variant segregating in multiple families, rare and low-frequency variants in 14 of the 15 KLK genes, and a knock-in mouse with hEDS features in tendons and heart valves. A preprint and The Ehlers-Danlos Society's summary appeared in June 2024. The society says hEDS remains a clinical diagnosis and that replication, including in the HEDGE study, is needed.
Not medical advice. This page summarizes research and does not recommend any course of care.
| EDS types | hEDS |
|---|---|
| Date | 2025-08 |
| Diagnostic criteria | 2017 International Classification |
| Last checked | 2026-09-16 |
| Reassess by | 2026-12-16 |
Evidence
clinicalmechanistic study
gray literaturepreprint
communitypatient-organization synthesis
registryregistry report