Fig. 1. High-impact mutation identified in FN1 in EO-OA family.

(A) Pedigree of investigated EO-OA family. Individual 10 was used for exome sequencing. Circles represent females, and squares represent males. Closed and open shapes represent affected healthy individuals, and striped shapes represent uncertain phenotypes, i.e., some complaints, but not confirmed by radiography. The diagonal line indicates deceased status. (B) Schematic diagram of a fibronectin subunit. Fibronectin consists of three types of repeats: type I (rectangle), type II (diamond), and type III (sphere). The C-terminal cysteines are involved in dimerization. The alternatively spliced sites are black shapes. Main binding sites for heparin, collagen, fibronectin, and integrin are shown. Position of the identified C518F mutation is indicated by the gray arrow.