Study of Three Common Mutations in CHRNE and CHAT Genes in Iranian Patients with the Congenital Myasthenic Syndrome

Congenital myasthenic syndrome (CMS) is the heterogeneous group of inherited disorders, characterized by dysfunction of neuromuscular junction (NMJ) transmission which appears shortly after birth. The patients suffered from CMS showed the resembling clinical manifestations. CMS is genetically inherited and caused by vary of DNA mutation. CMS is also known as mutations expressed in the NMJ such as acetylcholinereceptor (AChR) subunits. Materials and Methods: In this study mutations of CHAT gene in exon 5 and CHRNE gene in exon 11 and 12 in 23 patients with congenital myasthenic syndrome were investigated. For all the patients, DNA sequencing and PCR were done.Results: Our investigations detected the homozygous single base pair deletion in exon 12 of the CHRNE gene (chr17:4802186delC). This region is conserved across mammalian evolution which wasn’t filed in the 1000 genomes database. The mutation in CHAT gene was nonsense and had no effect on the incidence of the disease. Conclusion: CHRNE variation possibly is classified as a significant variant on etiology of CMSand can be suggested that Iranian CMS population carry regional pathogenic mutations. Notably, it could be revealed via targeted as well as whole genome sequencing.