PMC4499615_01
Pedigree and radiologic findings. (a) Pedigree of a Chinese family with aneurysms-osteoarthritis syndrome (AOS). Round symbols indicate female; square symbols, male; fully filled symbols, AOS; unfilled symbols, unaffected; diagonal lines, deceased; arrow, proband. (b) Computed tomography angiography (CTA) of II-2 demonstrated a bilateral common iliac artery aneurysm and abdominal aorta tortuosity. (c) CTA of II-2 revealed mural thrombosis in the right common iliac artery aneurysm. (d) Magnetic resonance image (MRI) of II-2 showed marked degenerative changes of lumbar spine and narrowing of the spinal cord.
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Computed tomography angiography (CTA) scan revealed a bilateral common iliac artery aneurysm and abdominal aorta tortuosity (Figure 1(b)). The right common iliac artery aneurysm was estimated to be 5.0 cm in diameter accompanied by mural thrombosis (Figure 1(c)). He was subsequently referred to magnetic resonance image (MRI) evaluation, which showed marked degenerative changes of lumbar spine and narrowing of the spinal cord (Figure 1(d)).
Mutation and bioinformatics analysis. (a) Sequencing results of the SMAD3 mutation. Sequence chromatogram indicates a G to A transition of nucleotide 266, resulting in a transformation of Cysteine into Tyrosine at amino acid position 89. (b) Sequence alignment of SMAD3 protein shows highly conserved amino acid Cysteine across species.
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 SMAD3 screening identified a heterozygous substitution of guanine to adenine at nucleotide 266 in the coding sequence of exon 2 (c.266G>A), in individuals II-1 and III-1 (Figure 2(a)). The altered amino acid is highly conserved across species (Figure 2(b)).