Fig. 1.

Dysmorphic features of DA5 individuals. (A) Infant photographs of individual 2 showing deep-set small eyes with mild ptosis, restricted shoulder abduction, and flexion contractures in the knees. Deep skin dimples can be seen on the shoulder (red circle) and sternum. (B) The DA of individual 2, 3, and 1 (from top to bottom). Note flexion contractures of the interphalangeal joints, increasing in severity from thumb to little finger. (C) Retinal photograph of individual 3 shows pigmented macular striae. This was not found in individual 1. (D) Flow volume loop of individual 3 showing markedly reduced total lung capacity (∼1 L) and restricted flow dynamics during both inspiration and expiration. (E) Hydrophobicity plot of human PIEZO2 showing Kyte–Doolittle hydrophobicity analysis (19-residue window) done with ProtScale program (Expasy). Triangles indicate the position of I802F and E2727del mutations.