case_images: PMC9632975_01
case_images: 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.
case_images: fsurg-09-986372-g001.jpg
case_images: PMC9632975_01_fsurg-09-986372-g001.jpg
case_images: F1
case_images: 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).
case_images: 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).
case_images: fsurg-09-986372-g002.jpg
case_images: PMC9632975_01_fsurg-09-986372-g002.jpg
case_images: F2
case_images: Most of the splice variants were located in introns 28, 33, 35, and 50 and in exon 49 (Figure 2, Supplementary Tables S1, S2).