Novel ARX mutation identified in infantile spasm syndrome patient

Yohei Takeshita; Tatsuyuki Ohto; Takashi Enokizono; Mai Tanaka; Hisato Suzuki; Hiroko Fukushima; Tomoko Uehara; Toshiki Takenouchi; Kenjiro Kosaki; Hidetoshi Takada

doi:10.1038/s41439-020-0094-2

Novel ARX mutation identified in infantile spasm syndrome patient

Hum Genome Var. 2020 Mar 31:7:9. doi: 10.1038/s41439-020-0094-2. eCollection 2020.

Authors

Yohei Takeshita¹, Tatsuyuki Ohto^{2

3}, Takashi Enokizono², Mai Tanaka², Hisato Suzuki⁴, Hiroko Fukushima^{2

3}, Tomoko Uehara⁴, Toshiki Takenouchi⁴, Kenjiro Kosaki⁴, Hidetoshi Takada^{2

3}

Affiliations

¹ Department of Pediatrics, Ibaraki Seinan Medical Center Hospital, Sakai-machi, Japan.
² 2Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.
³ 3Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
⁴ 4Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Abstract

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.

Keywords: Development; Disease genetics.