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

共 50 条

[21] COL4A1 MUTATION: EXPANSION OF THE PHENOTYPE
de Vries, L. S.
Pistorius, L.
Lichtenbelt, K. D.
Koopman, C.
Meuwissen, M. E. C.
Mancini, G. M. S.
PEDIATRIC RESEARCH, 2011, 70 : 181 - 181
[22] COL4A1 Mutation: Expansion of the Phenotype
L S de Vries
L Pistorius
K D Lichtenbelt
C Koopman
M E C Meuwissen
G M S Mancini
Pediatric Research, 2011, 70 : 181 - 181
[23] Late-Onset COL4A1 Mutation with Recurrent Ischemic and Hemorrhagic Strokes
Lee, Jenny J.
Patel, Smit
Hinman, Jason D.
NEUROLOGIST, 2024, 29 (01) : 1 - 3
[24] Childhood presentation of COL4A1 mutations
Shah, Siddharth
Ellard, Sian
Kneen, Rachel
Lim, Ming
Osborne, Nigel
Rankin, Julia
Stoodley, Neil
Van der Knaap, Marjo
Whitney, Andrea
Jardine, Philip
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2012, 54 (06): : 569 - 574
[25] Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation
Hatano, T.
Daida, K.
Hoshino, Y.
Li, Y.
Saitsu, H.
Matsumoto, N. C.
Hatter, N.
MOVEMENT DISORDERS, 2017, 32
[26] NOVEL COL4A1 GENE MUTATION IN A FAMILY WITH INTRACEREBRAL HEMORRHAGE AND LEUKOENCEPHALOPATHY
Nunomura, J.
Ota, K.
Umemori, T.
Fukuda, S.
Katayama, Y.
Kannari, K.
Uemura, M.
Onodera, O.
INTERNATIONAL JOURNAL OF STROKE, 2022, 17 (3_SUPPL) : 182 - 183
[27] Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
Sato, Yota
Shibasaki, Jun
Aida, Noriko
Hiiragi, Kazuya
Kimura, Yuichi
Akahira-Azuma, Moe
Enomoto, Yumi
Tsurusaki, Yoshinori
Kurosawa, Kenji
HUMAN GENOME VARIATION, 2018, 5
[28] Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
Tsurusaki, Y.
Sato, Y.
Shibasaki, J.
Aida, N.
Hiiragi, K.
Kimura, Y.
Akahira-Azuma, M.
Enomoto, Y.
Kurosawa, K.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 968 - 969
[29] Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation
Hatano, Taku
Daida, Kensuke
Hoshino, Yasunobu
Li, Yuanzhe
Saitsu, Hirotomo
Matsumoto, Naomichi
Hattori, Nobutaka
PARKINSONISM & RELATED DISORDERS, 2017, 40 : 80 - 82
[30] CEREBRAL SMALL-VESSEL DISEASE ASSOCIATED WITH COL4A1 AND COL4A2 GENE DUPLICATIONS
Renard, Dimitri
Mine, Manuele
Pipiras, Eva
Labauge, Pierre
Delahaye, Andree
Benzacken, Brigitte
Tournier-Lasserve, Elisabeth
NEUROLOGY, 2014, 83 (11) : 1029 - 1031

← 1 2 3 4 5 →