Table 1.
Data of the included studies on RNF213 testing in intracranial artery dissection.
| Reference | Country | Intracranial Artery Dissection Patients (N) | Sex | Age (Years) (Mean ± SD) | Dissected Artery | Diagnostic Technique (N) | Genetic Testing | RNF213 Variants (N/%) | Comments |
|---|---|---|---|---|---|---|---|---|---|
| Kim JS 2018 [33] | Korea | 24 cases vs. 24 age and sex matched controls | 8 males (33.3%) | 41.8 ± 10.2 | 21 MCA, 2 ICA, 1 PCA | MRA (n = 21), CTA (n = 3), DSA (n = 13), HRMRA (n = 21). | Blood samples for major SNIPs of RNF213 in East Asian patients [2] (p.D4013N, p.P4608S, p.R4810K, p.R4853K, p.D4836N and p.E4950D) amplifying and sequencing three exons (44, 60 and 62) |
8 (33.3) in cases vs. 1 (4.2) in controls All had heterozygous p.R4810K (c.14576G>A) variant |
11 had ischemic stroke, 7 had TIA, 3 had headache, and 3 pts were asymptomatic |
| Tashiro R et al., 2019 [34] | Japan | 24 patients with intracranial VA dissection, 62 patients with moyamoya disease and 48 healthy controls | NR | NR | Intracranial VA | MRA and BPAS-MRI were used to diagnose intracranial VA dissection [35] |
Saliva sample for RNF213 c.14576G>A polymorphism |
69.0% (40/58) in the moyamoya disease group, 0% (0/24) in the intracranial VAD group and 4.2% (2/48) in the healthy control group |
|
| Shinya Y 2020 [36] | Japan | 1 | Woman | 63 | MCA | MRA DSA |
Blood sample | p.Arg4810Lys (rs112735431) variant | Subarachnoid hemorrhage with left MCA dissection resulting in an irregular shape and fusiform dilation of the left M2 MCA wall. Progression to moyamoya disease pattern |
| Kim YJ 2016 [37] | Korea | 4/81 patients had MCA dissection | NR | NR | MCA | MRA HR-MRI [38] |
Blood samples for major SNIPs of RNF213 in East Asian patients [2] (p.D4013N, p.P4608S, p.R4810K, p.R4853K, p.D4836N and p.E4950D) amplifying and sequencing three exons (44, 60 and 62) |
Only the heterozygote of p.R4810K was more frequent in the non-atherosclerosis group than the atherosclerosis group (62.5% [10/16] versus 26.7% [4/15], respectively; p = 0.045). |
81 patients < 60 years old with isolated MCA steno-occlusion: 45 (56.6%) in the atherosclerosis and 36 (44.4%) in the nonatherosclerosis Group. 28/36 (77.8%) in non-atherosclerosis group had suspected moyamoya disease |
SNIPs: single-nucleotide polymorphisms; MCA: middle cerebral artery; ICA: internal carotid artery; PCA: posterior cerebral artery; SD: standard deviation; TIA: transient ischemic attack; MRA: Magnetic Resonance Angiography; CTA: Computed Tomography Angiography; HRMRA: high-resolution MRA; VA: vertebral artery.