Future studies to confirm mechanisms of drug-induced SD pathogenesis will benefit from larger sets of recently collected case material to facilitate validation of key candidate targets (IL16, NOTCH1, NOTCH4, JAGGED1, CCL2, ERG, MMP9 and EFNB2) using robust proteomic approaches including IF and/or western blotting. The gene discussed is NOTCH1; the disease is Salla disease.