case_images: PMC10620688_01
case_images: (A) Sanger sequencing. A genetic analysis identified a hemizygous nonsense variant of COL4A5 c.2980G > T (p.Gly994Ter; red circle). (B) Western blot analysis results. While full-length COL4A5 + FLAG protein (arrowheads) was detected only in culture media, not in cell lysate transfected with pcDNA3-COL4A5 + FLAG, shorted bands (arrows) were detected in culture media and cell lysates transfected with pcDNA3-COL4A5 c2980GtoT + FLAG. Similar results were obtained with rabbit polyclonal anti-FLAG antibody and rat monoclonal H53 antibody, which targeted the COL4A5 protein.
case_images: fmed-10-1227283-g001.jpg
case_images: PMC10620688_01_fmed-10-1227283-g001.jpg
case_images: fig1
case_images: A genetic test confirmed a hemizygous nonsense variant COL4A5 c.2980G > T (p.Gly994Ter; Figure 1A), and he was diagnosed with XLAS. ECL prime (Figure 1B). Experiments with mutant COL4A5 construction revealed that mutant COL4A5 was less strongly secreted extracellularly than wild-type COL4A5.
case_images: PMC10620688_02
case_images: (A) Banding operation of the left radial artery with a graft sheet. A schematic illustration is shown in the lower panel. The suture site was determined using vascular forceps. PTA, percutaneous transluminal angioplasty. (B) Left forearm 3 months after the operation.
case_images: fmed-10-1227283-g002.jpg
case_images: PMC10620688_02_fmed-10-1227283-g002.jpg
case_images: fig2
case_images: Next, a rectangular sheet of 5-mm-diameter polytetrafluoroethylene (PTFE) graft opened to a length of 5 cm was wrapped around the radial artery under the guidance of a 5-mm-diameter percutaneous transluminal angioplasty (PTA) balloon catheter through the cephalic vein (Figure 2A). Once the vascular forceps had been snapped (lower panel, Figure 2A), the PTA balloon was deflated and the blood flow in the brachial artery was examined. The patient's shortness of breath on exertion gradually improved, and the dilation of the cephalic vein in his left forearm also improved by 3 months after the operation (Figure 2B).