一名患有发育性癫痫性脑病的女性中存在GRIA3基因p.Met661Thr变异。
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.
作者信息
Okano Satomi, Makita Yoshio, Miyamoto Akie, Taketazu Genya, Kimura Kayano, Fukuda Ikue, Tanaka Hajime, Yanagi Kumiko, Kaname Tadashi
机构信息
Department of Pediatrics, Asahikawa Habilitation Center for Children, Hokkaido, Japan.
Department of Genetic Counseling, Asahikawa Medical University Hospital, Hokkaido, Japan.
出版信息
Hum Genome Var. 2023 Feb 2;10(1):4. doi: 10.1038/s41439-023-00232-1.
The X-linked human glutamate receptor subunit 3 (GRIA3) gene (MIM *305915, Xq25) encodes ionotropic α amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-type glutamate receptor subunit 3, which mediates postsynaptic neurotransmission. Variants in this gene can cause a variety of neurological disorders, primarily reported in male patients. Here, we report a female patient with developmental and epileptic encephalopathy who carries the novel de novo GRIA3 variant NM_007325.5: c.1982T > C: p.Met661Thr.
X连锁的人类谷氨酸受体亚基3（GRIA3）基因（MIM *305915，Xq25）编码离子型α-氨基-3-羟基-5-甲基-4-异恶唑丙酸（AMPA）型谷氨酸受体亚基3，该亚基介导突触后神经传递。该基因的变异可导致多种神经疾病，主要在男性患者中报道。在此，我们报告一名患有发育性和癫痫性脑病的女性患者，她携带新的GRIA3基因新生变异NM_007325.5:c.1982T＞C:p.Met661Thr。
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