PMC9632975_01
Patient's x-rays. First x-ray shows the initial left femoral shaft fracture. Second x-ray shows the first plating fixation. Third x-ray shows the fracture after a slight twist of the leg. Fourth x-ray shows the second plating fixation.
fsurg-09-986372-g001.jpg
PMC9632975_01_fsurg-09-986372-g001.jpg
F1
In June 2021, she fell from her height and suffered a left femoral shaft close fracture that required surgery and plating nailing placement (Figure 1 and Supplementary Figure S1). Most of the splice variants were located in introns 28, 33, 35, and 50 and in exon 49 (Figure 2, Supplementary Tables S1, S2).
Frequency of the location of OI splice variants and COL1A1 domain distribution. Upper region: location of the type of OI splice variants along the COL1A1 introns and exons. OI is classified according to the Sillence classification in four types: I (mild) and IV (moderate deforming), frequent but less severe; II (lethal) and III (severe deforming), less frequent but more lethal. Most splice variants are located in intron 17. Black and white pattern = type I, black = type II, gray = type III, and oblique black = type IV. Lower region: functional domains along COL1A1 introns and exons. Most splice variants are located in the triple-helical region. Black square = signal peptide, light gray rectangle = von Willebrand factor type C and nonhelical region (N-terminal), white rectangle = triple-helical region, and dark gray rectangle = nonhelical region (C-terminal).
fsurg-09-986372-g002.jpg
PMC9632975_01_fsurg-09-986372-g002.jpg
F2
Most of the splice variants were located in introns 28, 33, 35, and 50 and in exon 49 (Figure 2, Supplementary Tables S1, S2).