Genetics and biomarkers

KLK15 is the first gene associated with hEDS

Norris Lab whole-exome sequencing of 200 hEDS patients found rare variants across 14 of 15 kallikrein genes, with a recurrent KLK15 p.Gly226Asp variant segregating in multiple families; a knock-in mouse recapitulated tendon and cardiac-valve features. The authors and the society both caution this does not yet change diagnosis — it is the first candidate, not a test.