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A Case Report of Congenital Myasthenic Syndrome Caused by a Mutation in the Chrne Gene in the Iranian Population Publisher



Farjami Z1 ; Khodaenia N1 ; Ebrahimi N2 ; Zamani G3 ; Ashnaei AH4 ; Galehdari M5 ; Moradyar M1 ; Houshmand M1
Authors
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Authors Affiliations
  1. 1. National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
  2. 2. Laboratory of Cedars-Sinai Medical Center, Los Angeles, CA, United States
  3. 3. Pediatric Neurologist, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Modern Sciences and technologies, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
  5. 5. Department of Biology, Faculty of Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran

Source: Iranian Journal of Child Neurology Published:2020


Abstract

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. © 2020, Iranian Child Neurology Society. All rights reserved.
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