Figure 3
From: Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type
Functional effects of ADAMTS2 mutations. (a) qPCR analysis of P2, P3, P4, and three control individuals shows severely reduced ADAMTS2 expression in total RNA isolated from affected individuals’ skin fibroblast cultures. Total RNA was not available for P5 due to growth arrest of the patient-derived fibroblast cell line. Data are expressed as mean ± SEM. (b) Biochemical electrophoretic analysis of procollagens. Accumulation of pNα1(I) and pNα2(I) procollagen chains and nearly complete absence of bands representing the pCα1(I) and pCα2(I) procollagen chains were observed in P2, P3, P4, and P5. Arrows denote increased (↑) or decreased (↓) intensity of the respective (pro)collagen fraction. (c) Ultrastructural analysis of dermal skin biopsy samples in P2, P3, P4, and P5 showed relatively mild abnormalities compared to the “hieroglyphic” abnormalities in previously reported patients. qPCR, quantitative polymerase chain reaction.
