Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia
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 atheroscle...
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2021-11-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-021-01623-6 |
| _version_ | 1828146564235788288 |
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| author | Yasuo Murai Eitaro Ishisaka Atsushi Watanabe Tetsuro Sekine Kazutaka Shirokane Fumihiro Matano Ryuta Nakae Tomonori Tamaki Kenta Koketsu Akio Morita |
| author_facet | Yasuo Murai Eitaro Ishisaka Atsushi Watanabe Tetsuro Sekine Kazutaka Shirokane Fumihiro Matano Ryuta Nakae Tomonori Tamaki Kenta Koketsu Akio Morita |
| author_sort | Yasuo Murai |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T20:50:14Z |
| format | Article |
| id | doaj.art-785970036c854eac865b9a6c405ca531 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-04-11T20:50:14Z |
| publishDate | 2021-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-785970036c854eac865b9a6c405ca5312022-12-22T04:03:53ZengNature PortfolioScientific Reports2045-23222021-11-0111111010.1038/s41598-021-01623-6Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasiaYasuo Murai0Eitaro Ishisaka1Atsushi Watanabe2Tetsuro Sekine3Kazutaka Shirokane4Fumihiro Matano5Ryuta Nakae6Tomonori Tamaki7Kenta Koketsu8Akio Morita9Department of Neurological Surgery, Nippon Medical SchoolDepartment of Neurological Surgery, Nippon Medical SchoolDivision of Clinical Genetics, Kanazawa University HospitalDepartment of Radiology, Nippon Medical School Musashi-Kosugi HospitalDepartment of Neurological Surgery, Nippon Medical SchoolDepartment of Neurological Surgery, Nippon Medical SchoolDepartment of Emergency and Critical Care Medicine, Nippon Medical School HospitalDepartment of Neurosurgery, Nippon Medical School Tama Nagayama HospitalDepartment of Neurological Surgery, Nippon Medical SchoolDepartment of Neurological Surgery, Nippon Medical SchoolAbstract 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.https://doi.org/10.1038/s41598-021-01623-6 |
| spellingShingle | Yasuo Murai Eitaro Ishisaka Atsushi Watanabe Tetsuro Sekine Kazutaka Shirokane Fumihiro Matano Ryuta Nakae Tomonori Tamaki Kenta Koketsu Akio Morita Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia Scientific Reports |
| title | Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia |
| title_full | Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia |
| title_fullStr | Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia |
| title_full_unstemmed | Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia |
| title_short | Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia |
| title_sort | ring finger protein 213 c 14576g a mutation is not involved in internal carotid artery and middle cerebral artery dysplasia |
| url | https://doi.org/10.1038/s41598-021-01623-6 |
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