一种与复发性鼻出血和胶质母细胞瘤相关的新型COL4A1变体。
A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma.
作者信息
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
机构信息
Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Department of Neurology, Brain Attack Center Ota Memorial Hospital, Hiroshima, Japan.
出版信息
Hum Genome Var. 2021 May 14;8(1):18. doi: 10.1038/s41439-021-00150-0.
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.
与COL4A1相关的疾病的特征是脑出血的发生率高于其他遗传性脑小血管疾病。越来越多的数据显示出广泛的表型变异，并且脑外出血与这些疾病有关。此外，还描述了神经肿瘤的共存情况。在此，我们报告一个具有新型COL4A1变异的日本家族，其中包括一名反复鼻出血和患有胶质母细胞瘤的患者。
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