KLK15 is a candidate gene for hEDS, not yet a diagnostic test

Whole-exome sequencing of 200 people with hEDS by the Norris Lab found rare and low-frequency variants in 14 of the 15 kallikrein (KLK) genes, including a recurrent KLK15 variant (p.Gly226Asp) that segregated in multiple families. Mice carrying the variant showed hEDS features in tendons and heart valves. The Ehlers-Danlos Society says KLK genes are not on EDS genetic testing panels and hEDS remains a clinical diagnosis, and the authors say the study does not propose a diagnostic framework.

By Hraness · Drafted with AI assistance.