Fig. 2 | Journal of Human Genetics

Fig. 2

From: Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral–basilar artery dissection (IVAD)

Fig. 2

Clinical and genetic characteristics of patients carrying variants in novel IVAD-related genes. a Left, Sanger validation of the VPS52 variant in IVAD5. Middle-left, left vertebral angiogram (lateral view) reveals a dolichoectatic dissecting aneurysm (arrow) of V4 segment of the left vertebral artery. Axial high-resolution T2WI (middle-right) shows a giant dissecting aneurysm with pseudolumen (arrow) of the left vertebral artery and its serious mass effect. Right, protein structure predicted by I-TASSER shows replacement of the long side chain of Arginine528 by a short, sulfur-containing side chain of cysteine. Surface structure modeling shows that the Arg498 was located at the surface of the protein. b Left, Sanger validation of the CDK18 variant in IVAD23. Middle-left, left vertebral angiogram (frontal view) reveals a junctional dissecting aneurysm (arrow) of vertebral artery V4 segment and basilar artery in IVAD23. Axial high-resolution T2WI (middle-right) shows left vertebral artery harboring a giant dissection (arrow) with thrombosis inside the lumen. Right, the p.Lys142Asn variant alters a conserved residue. c Left, Sanger validation of the LYL1 variant in IVAD53. Middle-left, left vertebral angiogram (frontal view) illustrates a dissecting aneurysm (arrow) of V4 segment of the left vertebral artery. Middle-right, Axial high-resolution T2WI displays left vertebral artery dissection (arrow) with pseudolumen. Right, the NM_005583.4: c.748C>T (p.Gln250Ter) variant creates a premature stop codon close to the C terminus of the LYL1 protein. d Left, Sanger validation of the MYH9 variant in IVAD73. Middle-left, left vertebral angiogram (lateral view) reveals a dissecting aneurysm of the V4 segment of the left vertebral artery. Middle-right, Axial high-resolution T2WI confirms left vertebral artery dissection (arrow). Right, the NM_002473.4:c.487C>T(p.Gln163Ter) variant (in black) generates a premature stop codon at the beginning of the motor domain. Three nonsense variants (in gray) previously reported to cause MYH9-related disorder according to HGMD are located near the C terminal

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