Figure 1.

Selected clinical features of individual 2, and schematic diagram showing the genomic structure of TNXB and the secondary structure of tenascin-X. (a) Markedly hyperextensible skin of the dorsum of the hands. (b) Residual scar from recurrent molluscoid pseudotumors of the elbow. (c) Piezogenic papules of the heel. (d) Coding regions are highlighted with white boxes and introns with black horizontal lines. Tenascin-X is characterized structurally from N-terminus to C-terminus by: (i) an N-terminus with a series of repeats that resemble epidermal growth factor (EGFL repeats); (ii) a stretch of fibronectin type III repeats (FBIII1-31); and (iii) a large C-terminal domain structurally related to fibrinogen (Fibrinogen C). Previously identified variants associated with TNXB-clEDS are represented in black. Variants identified in the individuals 1 and 2 are represented in blue and red, respectively.