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Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease

Moyamoya disease is a progressive steno-occlusive condition of the main intracranial arteries that results in the compensatory formation of fragile moyamoya vessels at the base of the brain. RNF213 is the most significant susceptibility gene and is often found with the p.Arg4810Lys founder variant i...

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Detalles Bibliográficos
Autores principales: Akagawa, Hiroyuki, Mukawa, Maki, Nariai, Tadashi, Nomura, Shunsuke, Aihara, Yasuo, Onda, Hideaki, Yoneyama, Taku, Kudo, Takumi, Sumita, Kazutaka, Maehara, Taketoshi, Kawamata, Takakazu, Kasuya, Hidetoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784207/
https://www.ncbi.nlm.nih.gov/pubmed/29387438
http://dx.doi.org/10.1038/hgv.2017.60
Descripción
Sumario:Moyamoya disease is a progressive steno-occlusive condition of the main intracranial arteries that results in the compensatory formation of fragile moyamoya vessels at the base of the brain. RNF213 is the most significant susceptibility gene and is often found with the p.Arg4810Lys founder variant in East Asian patients. We identified three putatively deleterious variants of this gene from three pediatric patients: two were novel, and one was a recurrent missense variant previously reported in other pediatric patients.