Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases

ABSTRACT: Background: Giant axonal neuropathy (GAN) is a very rare fatal neurodegenerative disorder with clinical and allelic heterogeneity. The disease is caused by mutations in the GAN (gigaxonin) gene. Herein, we reported the clinical presentations and results of genetic analysis of the first Iranian GAN case. Methods: Phenotypic data were obtained by neurologic examination, brain magnetic resonance imaging (MRI), electromyography (EMG), electroencephalography (EEG), and sonography from the proband. Deoxyribonucleic acid (DNA) was isolated from peripheral blood leucocytes and whole exome sequencing (WES) was performed. The candidate variant was screened by Sanger sequencing in the proband and her family members. Results: The proband was a 7-year-old girl who was admitted with a chief complaint of

SUBMITTER: Vafaee-Shahi M 

PROVIDER: S-EPMC8236428 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature