Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report.

ABSTRACT: Variants in the aristaless-related homeobox (ARX) gene cause a diverse spectrum of phenotypes of neurodevelopmental disorders (NDD) in male patients. This article describes the role of genetic testing using whole-exome sequencing (WES) in detecting a novel de novo frameshift variant in the ARX gene in a female patient with autism, seizure, and global developmental delay.

Case presentation

A 2-year-old girl with frequent seizures, global developmental delay, and autistic features was referred to our hospital. She was the second child of consanguineous non-affected parents. She had a high forehead, mildly prominent ears, and prominent nasal root. A generalized epileptiform discharge was noted in her electroencephalography. Brain MRI revealed corpus callosum agenes

SUBMITTER: Iskandar K 

PROVIDER: S-EPMC9949785 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature