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...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Yasuo Murai, Eitaro Ishisaka, Atsushi Watanabe, Tetsuro Sekine, Kazutaka Shirokane, Fumihiro Matano, Ryuta Nakae, Tomonori Tamaki, Kenta Koketsu, Akio Morita
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/785970036c854eac865b9a6c405ca531
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:785970036c854eac865b9a6c405ca531
record_format	dspace
spelling	oai:doaj.org-article:785970036c854eac865b9a6c405ca5312021-11-14T12:19:05ZRing finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia10.1038/s41598-021-01623-62045-2322https://doaj.org/article/785970036c854eac865b9a6c405ca5312021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-01623-6https://doaj.org/toc/2045-2322Abstract 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.Yasuo MuraiEitaro IshisakaAtsushi WatanabeTetsuro SekineKazutaka ShirokaneFumihiro MatanoRyuta NakaeTomonori TamakiKenta KoketsuAkio MoritaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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
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.
format	article
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
title	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_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_sort	ring finger protein 213 c.14576g>a mutation is not involved in internal carotid artery and middle cerebral artery dysplasia
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/785970036c854eac865b9a6c405ca531
work_keys_str_mv	AT yasuomurai ringfingerprotein213c14576gamutationisnotinvolvedininternalcarotidarteryandmiddlecerebralarterydysplasia AT eitaroishisaka ringfingerprotein213c14576gamutationisnotinvolvedininternalcarotidarteryandmiddlecerebralarterydysplasia AT atsushiwatanabe ringfingerprotein213c14576gamutationisnotinvolvedininternalcarotidarteryandmiddlecerebralarterydysplasia AT tetsurosekine ringfingerprotein213c14576gamutationisnotinvolvedininternalcarotidarteryandmiddlecerebralarterydysplasia AT kazutakashirokane ringfingerprotein213c14576gamutationisnotinvolvedininternalcarotidarteryandmiddlecerebralarterydysplasia AT fumihiromatano ringfingerprotein213c14576gamutationisnotinvolvedininternalcarotidarteryandmiddlecerebralarterydysplasia AT ryutanakae ringfingerprotein213c14576gamutationisnotinvolvedininternalcarotidarteryandmiddlecerebralarterydysplasia AT tomonoritamaki ringfingerprotein213c14576gamutationisnotinvolvedininternalcarotidarteryandmiddlecerebralarterydysplasia AT kentakoketsu ringfingerprotein213c14576gamutationisnotinvolvedininternalcarotidarteryandmiddlecerebralarterydysplasia AT akiomorita ringfingerprotein213c14576gamutationisnotinvolvedininternalcarotidarteryandmiddlecerebralarterydysplasia
_version_	1718429294613495808

Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia

Ejemplares similares