Novel ARX mutation identified in infantile spasm syndrome patient

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

doi:10.1038/s41439-020-0094-2

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.

Highlights

We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene
ISSX1 is caused by missense mutations or expansion mutations in the polyalanine tract in the Aristaless-related homeobox (ARX) gene, as well as intellectual disabilities and epilepsy without severe brain malformation, including X-linked intellectual disability with or without dystonia and Ohtahara syndrome[1]
We present a 7-year-old boy with infantile spasm syndrome caused by a novel mutation of the ARX gene, as confirmed by exome sequencing

Summary

Introduction

We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. ISSX1 is caused by missense mutations or expansion mutations in the polyalanine tract in the Aristaless-related homeobox (ARX) gene, as well as intellectual disabilities and epilepsy without severe brain malformation, including X-linked intellectual disability with or without dystonia and Ohtahara syndrome[1].

Results

Conclusion