A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma

COL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neur...

Descripción completa

Detalles Bibliográficos
Autores principales: Muto, Kohei, Miyamoto, Ryosuke, Terasawa, Yuka, Shimatani, Yoshimitsu, Hara, Keijiro, Kakimoto, Takumi, Fukumoto, Tatsuya, Osaki, Yusuke, Fujita, Koji, Harada, Masafumi, Uehara, Hisanori, Takagi, Yasushi, Izumi, Yuishin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121905/
https://www.ncbi.nlm.nih.gov/pubmed/33990551
http://dx.doi.org/10.1038/s41439-021-00150-0
Descripción
Sumario:COL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neural tumors has been described. Here, we report a Japanese family with a novel COL4A1 variant, including a patient with recurrent epistaxis and glioblastoma.

Ejemplares similares