Disease historiography

KLK15 identified as the first gene associated with hEDS

The Norris Lab and colleagues published whole-exome work implicating kallikrein-family variants in hEDS: a recurrent KLK15 missense variant segregating in multiple families, burden enrichment across KLK genes, and a knock-in mouse recapitulating connective-tissue features. Published in iScience (August 2025) after a 2024 preprint and society announcement; hEDS remains a clinical diagnosis pending replication and HEDGE results.