Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.

ABSTRACT:

Background

Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems. Disease-causing variants in the gigaxonin gene (GAN) cause autosomal recessive giant axonal neuropathy. Facial weakness, nystagmus, scoliosis, kinky or curly hair, pyramidal and cerebellar signs, and sensory and motor axonal neuropathy are the main symptoms of this disorder. Here, we report two novel variants in the GAN gene from two unrelated Iranian families.

Methods

Clinical and imaging data of patients were recorded and evaluated, retrospectively. Whole-exome sequencing (WES) was undertaken in order to detect disease-causing variants in participants. Confirmation of a causative variant in all three patients and their

SUBMITTER: Ashrafi MR 

PROVIDER: S-EPMC10265088 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature