Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report

Background Giant axonal neuropathy (GAN) is a rare autosomal recessive, early-onset and fatal neurodegenerative disorder which develops into severe impairments in both peripheral and central nervous systems. Methods and Results Trio-WES analysis was used to detect genetic mutations associated with disorders, and Sanger sequencing was used to confirm the mutations in the patient. We identified two novel variations in GAN gene (c.809G > T(p.G270V); c.1182 C > A(p.Y394X)) within a Chinese family. Meanwhile, we propose a hypothesis of the molecular mechanism leading to GAN. Conclusions This study extend the number of GAN mutations associated with GAN disease and would provide reference for clinical diagnosis in the future.