PMC10020691_01
Low-dose, enhanced CT of the child with GACI caused by a homozygous variation in ENPP1. (A) and (B) stenosis of bilateral iliac artery; the thinnest parts of the left and right iliac arteries are 1.7 mm and 1.3 mm wide, respectively. (C) The black arrow indicates the presence of calcification in the descending aorta, thoracic aorta, and abdominal aorta. (D) The black arrow indicates the stenotic right renal artery.
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F1
Enhanced CT further revealed extensive calcification of the iliac arteries, renal arteries, and abdominal aorta, without bone abnormalities (Figure 1).
(A) family history of the proband. (B) Sanger sequencing revealed a homozygous mutation (c.783C > G p.Y261X) of ENPP1 in the proband boy, originating from his parents. (C) Normal protein structure; the black arrow represents the mutation site. (D) Structure of the mutated protein.
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F2
Genetic testing revealed a rare homozygous mutation in the ENPP1 (c.783C > G Y261X) gene, which was inherited from his parents (Figure 2A, B).