A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma

被引：4

作者：

Muto, Kohei ^{[1
]}

Miyamoto, Ryosuke ^{[1
]}

Terasawa, Yuka ^{[2
]}

Shimatani, Yoshimitsu ^{[3
]}

Hara, Keijiro ^{[4
]}

Kakimoto, Takumi ^{[5
]}

Fukumoto, Tatsuya ^{[1
]}

Osaki, Yusuke ^{[1
]}

Fujita, Koji ^{[1
]}

Harada, Masafumi ^{[6
]}

Uehara, Hisanori ^{[5
]}

Takagi, Yasushi ^{[4
]}

Izumi, Yuishin ^{[1
]}

机构：

[1] Tokushima Univ, Dept Neurol, Grad Sch Biomed Sci, Tokushima, Japan

[2] Brain Attack Ctr Ota Mem Hosp, Dept Neurol, Hiroshima, Japan

[3] Tokushima Prefectural Cent Hosp, Dept Neurol, Tokushima, Japan

[4] Tokushima Univ, Dept Neurosurg, Grad Sch Biomed Sci, Tokushima, Japan

[5] Tokushima Univ Hosp, Div Pathol, Tokushima, Japan

[6] Tokushima Univ, Dept Radiol, Grad Sch Biomed Sci, Tokushima, Japan

来源：

HUMAN GENOME VARIATION | 2021年 / 8卷 / 01期

关键词：

SMALL VESSEL DISEASE; MUTATIONS; HEMORRHAGE; PHENOTYPE;

D O I：

10.1038/s41439-021-00150-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：4

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