Novel ARX Mutation Identified in Infantile Spasm Syndrome Patient
Novel ARX Mutation Identified in Infantile Spasm Syndrome Patient
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在婴儿痉挛综合症患者中发现新的 ARX 突变
DOI：
10.1038/s41439-020-0094-2
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发表时间：
2020
期刊：
影响因子：
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通讯作者：
Takada H
中科院分区：
文献类型：
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作者：
Takeshita Y;Ohto T;Enokizono T;Tanaka M;Suzuki H;Fukushima H;Uehara T;Takenouchi T;Kosaki K;Takada H
我们报告一个7岁的男孩与婴儿痉挛症引起的新突变的阿里斯泰尔斯相关的同源框（ARX）基因。他从婴儿早期开始就表现出婴儿痉挛和脑电图心律失常。脑部MRI除胼胝体轻度发育不全外，未发现严重的脑部畸形。促肾上腺皮质激素（ACTH）双重治疗未能控制癫痫发作，需要生酮饮食治疗和多种抗癫痫药物治疗，因为他表现出顽固性每日强直阵挛性癫痫发作。外显子组测序鉴定了ARX基因中的半合子突变NG_008281。1（ARX_v001）：c. 1448+ 1 G> A，chrX：25025227 C> T（GRCh37）。据我们所知，这种突变以前没有报道过。
We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy. Brain MRI did not reveal severe malformation of the brain except mild hypoplasia of the corpus callosum. Two-fold adrenocorticotropic hormone (ACTH) therapy failed to control the seizures, and ketogenic diet therapy and multi-antiepileptic drug therapy were required as he showed intractable daily tonic-clonic seizures. Exome sequencing identified a hemizygous mutation in the ARX gene, NG_008281. 1 (ARX_v001): c. 1448+ 1 G> A, chrX: 25025227 C> T (GRCh37). To our knowledge, this mutation has not been reported previously.