A case report of congenital myasthenic syndrome caused by a mutation in the CHRNE gene in the Iranian population
نویسندگان
1 National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
2 1-National Institute of Genetic Engineering and Biotechnology, Tehran, Iran 3-Laboratory of Cedars-Sinai Medical Center, Los Angeles, California, USA
3 children Medical Center,Tehran University of Medical Science.
4 Department of Modern Sciences and Technologies; Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
5 Department of Medical Genetics, National Research Center of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
6 Faculty of Biological Sciences, Department of Genetics, North Tehran Branch, Islamic Azad University, Tehran, Iran
7 Department of Medical Genetics, National Research Center of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
8 1. Assistant Professor, Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Iran 2.The research center, Knowledge university, Erbil, Kurdistan Region, Iraq
doi
10.22037/ijcn.v14i4.20178چکیده
Congenital myasthenic syndrome (CMS) refers to a heterogeneous group of inherited disorders, characterized by defective transmission at the neuromuscular junction (NMJ). Patients with CMS showed similar muscle weakness, while other clinical manifestations are mostly dependent on genetic factors. This disease, caused by different DNA mutations, is genetically inherited. It is also associated with mutations of genes at NMJ, involving the acetylcholine receptor (AChR) subunits. Here, we present the case of a five-year-old Iranian boy with CMS, undergoing targeted sequencing of a panel of genes, associated with arthrogryposis and CMS. The patient had six affected relatives in his genetic pedigree chart. The investigations indicated a homozygous single base pair deletion at exon 12 of the CHRNE gene (chr17:4802186delC). This region was conserved across mammalian evolution and was not submitted to the 1000 Genomes Project database. Overall, the CHRNE variant may be classified as a significant variant in the etiology of CMS. It can be suggested that the Iranian CMS population carry regional pathogenic mutations, which can be detected via targeted and whole genome sequencing.
