Giant axonal neuropathy: A first Iranian case with a novel mutation in the gigaxonin gene and review of literature

Giant axonal neuropathy (GAN) is a very rare neurodegenerative disorder with multiple clinical, physical, and radiological features. This disease is caused by recessive mutations in the Gigaxonin Gene. Here, we reported a ۷-year-old girl who was admitted with chief complains of ataxia, weakness, growth disorders, and history of psychiatric disorders. She was born from a couple with consanguineous marriage. On physical examinations, she was very moody and had clumsiness gait, decreased deep tendon reflexes of lower limbs, and curly and kinky hair. The brain magnetic resonance imaging (MRI) revealed white matter abnormality. The routine laboratory tests results were normal. The electromyography (EMG) revealed compatible with chronic axonal type sensorimotor polyneuropathy, but electroencephalogram (EEG) showed normal result. Eventually, molecular test analysis with next generation sequencing (NGS) reported a novel homozygous pathogenic variant (c.G۷۷۸T:p.E۲۶۰X) in exon ۴ of the GAN gene,indicating the giant axonal neuropathy disorder. Molecular analysis of GAN gene is valuable for the diagnosis of new cases and prediction of the disease severity. Since thereis a possible relationship between consanguineous marriage and GAN incidence, premarital genetic counseling and education is necessary.

کلیدواژه ها:

Giant Axonal Neuropathy ، Gigaxonin ، Iranian Case ، Mutation.