A new KCNN4 pathogenic variant and different Osmoscan curves in Gardos channelopathy and PIEZO1 hereditary xerocytosis. (A) Schematic representation of the KCNN4 gene and functional domains of the protein with the position of the variants associated with Gardos channelopathy. Family trees of family A (Bi) and family B (Bii); arrows indicate the index cases, light blue represents KCNN4 p.S314P mutation, and gray indicates HBB c.188 C>T, p.Q39X, and α −3.7del variants corresponding to thalassemic trait. (Ci) Osmoscan curve of patients AIII.1 (red solid line), AII.1 (red dashed line), BI.1 (purple solid line), and BII.2 (purple dashed line), compared with healthy control subjects (gray area). (Cii) Osmoscan curves of patient AIII.1 carrying the p.S314P variant (red line) and a patient with KCNN4 p.R352H mutation (green line) compared with healthy control subjects (gray area) and 10 patients carrying missense mutations in the PIEZO1 gene (light blue area).