Abstract
The ring finger protein 213 (RNF213) susceptibility gene has been detected in more than 80% of Japanese and Korean patients with moyamoya disease (MMD), a bilateral internal carotid artery (ICA) occlusion. Furthermore, RNF213 has been detected in more than 20% of East Asians with atherosclerotic ICA stenosis. In this study, we evaluated the frequency of RNF213 mutations in congenital occlusive lesions of the ICA system. This case series was conducted jointly at four university hospitals. Patients with a family history of MMD, quasi-MMD, or related diseases were excluded. Ten patients were diagnosed with abnormal ICA or middle cerebral artery (MCA) angiogenesis. Patients with neurofibromatosis were excluded. Finally, nine patients with congenital vascular abnormalities were selected; of these, five had ICA deficiency and four had twig-like MCA. The RNF213 c.14576G > A mutation was absent in all patients. Therefore, the RNF213 c.14576G > A mutation may not be associated with ICA and MCA congenital dysplasia—rare vascular anomalies making it difficult to study a large number of cases. However, an accumulation of cases is required for accurate determination. The results of this study may help differentiate congenital vascular diseases from MMD.
Highlights
Moyamoya disease (MMD) is a progressive, bilateral occlusive disease of the internal carotid artery (ICA) system that eventually leads to stroke
The aim of this study was to determine the frequency of Ring finger protein 213 (RNF213) mutations in congenital occlusive lesions of the ICA system by strict selection based on radiological imaging, previous diseases, and family history
As the frequency of the RNF213 c.14576G > A mutation has already been established in Japanese patients with M MD5,8, we performed genetic analysis to determine whether the RNF213 c.14576G > A mutation is involved in patients diagnosed with congenital dysplasia of the ICA and middle cerebral artery (MCA)
Summary
Moyamoya disease (MMD) is a progressive, bilateral occlusive disease of the internal carotid artery (ICA) system that eventually leads to stroke. It is more common among Asians, with an incidence of 3–10.5 per 100,000 individuals[1]. MMD and congenital vascular occlusive abnormalities are identified in childhood, whereas atherosclerotic changes are observed in elderly patients. Normal Asian population without intracranial vascular lesions and in approximately 22%–24% of patients with atherosclerotic occlusive lesions of the ICA s ystem[5,8]. The aim of this study was to determine the frequency of RNF213 mutations in congenital occlusive lesions of the ICA system by strict selection based on radiological imaging, previous diseases, and family history
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