Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia
| Autor: | Eitaro Ishisaka, Ryuta Nakae, Atsushi Watanabe, Yasuo Murai, Fumihiro Matano, Tomonori Tamaki, Kenta Koketsu, Tetsuro Sekine, Kazutaka Shirokane, Akio Morita |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Intracranial Arteriovenous Malformations Male medicine.medical_specialty Middle Cerebral Artery Ubiquitin-Protein Ligases Science Article Young Adult Imaging Three-Dimensional Medical research Internal medicine medicine.artery Occlusion medicine Genetics Humans Genetic Predisposition to Disease Moyamoya disease Family history Neurofibromatosis Signs and symptoms Alleles Genetic Association Studies Adenosine Triphosphatases Multidisciplinary business.industry Middle Aged medicine.disease Magnetic Resonance Imaging Stenosis Phenotype Oncology Risk factors Dysplasia Middle cerebral artery Mutation Cardiology cardiovascular system Medicine Female Internal carotid artery Symptom Assessment Anatomy business Carotid Artery Internal Magnetic Resonance Angiography |
| Zdroj: | Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021) Scientific Reports |
| ISSN: | 2045-2322 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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