一名女性发育性癫痫脑病患者的 GRIA3 p.Met661Thr 变异。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2023-02-02 DOI:10.1038/s41439-023-00232-1

Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Ikue Fukuda, Hajime Tanaka, Kumiko Yanagi, Tadashi Kaname

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摘要

X 连锁人类谷氨酸受体亚单位 3（GRIA3）基因（MIM *305915，Xq25）编码离子型α氨基-3-羟基-5-甲基-4-异恶唑丙酸盐（AMPA）型谷氨酸受体亚单位 3，它介导突触后神经传递。该基因的变异可导致多种神经系统疾病，主要见于男性患者。在此，我们报告了一名患有发育性和癫痫性脑病的女性患者，她携带了新发的 GRIA3 变异 NM_007325.5：c.1982T > C：p.Met661Thr。

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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.

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.

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