Author/Authors :
FARJAMI, Zahra National Institute of Genetic Engineering and Biotechnology, Tehran, Iran , KHODAENIA, Negar National Institute of Genetic Engineering and Biotechnology, Tehran, Iran , EBRAHIMI, Neshat Laboratory of Cedars-Sinai Medical Center, Los Angeles, California, USA , ZAMANI, Gholamreza Pediatric Neurologist - Tehran University of Medical Sciences, Tehran, Iran , ASHNAEI, Amir Hosein Department of Modern Sciences and technologies - Faculty of Medicine - Mashhad University of Medical Sciences, Mashhad, Iran , GALEHDARI, Mohammad Department of Biology - Faculty of Sciences - North Tehran Branch, Islamic Azad University, Tehran, Iran , MORADYAR, Mehdi National Institute of Genetic Engineering and Biotechnology, Tehran, Iran , Massoud HOUSHMAND National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
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.
