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Figure 1
Color-coded volume rendering of the brain and neck CT-angiography of P1 with marked tortuosity of the cerebral arteries (black arrows) shown at different cross-sectional levels (A and B) and vertebral arteries (white arrows) shown in sagittal sections (C and D).
Figure 2
Computed tomography angiography of the aortic arch of P1 (A-D). Right subclavian artery (RSA) and right common carotid artery (RCCA) emerge from a right innominate artery, which is the first aortic arch branch (black arrows); left common carotid artery (LCCA) (marked with an asterisk) is the second and left subclavian artery (LSA) is the third aortic arch branch.
Figure 3
Molecular characterization. Sequencing of SLC2A10 exons and splice junctions revealed the following: P1 was homozygous for the c.254T>C, p.(Leu85Pro) missense mutation and P2 was homozygous for the recurrent c.685C>T, p.(Arg229*) nonsense mutation.
Figure 4
Family pedigree of P1. Children affected by ATS are shown in black, P1 is identified by an arrow.