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No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.

Author(s): Parvizi Omran S, Houshmand M, Dominic D, Farjami Z, Karimzadeh P

Iran J Child Neurol. 2019;13(2):135-143 Authors: Parvizi Omran S, Houshmand M, Dominic D, Farjami Z, Karimzadeh P

Article GUID: 31037086
Title:No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.
Authors:Parvizi Omran S,  Houshmand M,  Dominic D,  Farjami Z,  Karimzadeh P
Link:https://www.ncbi.nlm.nih.gov/pubmed/31037086?dopt=Abstract
Category:Iran J Child Neurol
PMID:31037086
Dept Affiliation: BIOLOGY
1 Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran.
2 Department of Human Genetics, National Institute of Genetic Engineerin -Biotechnology, Tehran, Iran.
3 Department of Biology, Concordia University, Montreal, Canada.
4 Department of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical Sciences.
5 Pediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
6 6.Pediatric Neurology Department, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Description:

No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.

Iran J Child Neurol. 2019;13(2):135-143

Authors: Parvizi Omran S, Houshmand M, Dominic D, Farjami Z, Karimzadeh P

Abstract

Objectives: We aimed to perform genetic testing and clinical data of patients with Congenital Myasthenic Syndrome, a rare disorder caused by mutations in genes encoding molecules expressed in the neuromuscular junction and constitutes fatigable muscle weakness.

Materials & Methods: Sixteen patients were screened in Taban Clinic, Tehran, Iran from 2014 to 2015 for the hot spot mutations in known CMSs genes (CHRNE, CHAT, RAPSN) based on clinical data. PCR was performed and then direct DNA sequencing was done for mutation identification.

Results: Most patients represented the criteria of Congenital Myasthenic Syndrome in view of early ptosis, motor delay, normal mental development, easy fatigability, decrement in repetitive nerve stimulation test of EMG-NCV and a negative result for antibody against of acetylcholine receptor. No variations were found in the mutational analysis of the CHRNE gene. Analysis of CHAT gene revealed c.358G>A (P. A120T) variation in 9 patients. In the gene RAPSN, polymorphism c.456T>C )P.Y152Y) and polymorphism c.193-15C>T (IVS1-15C>T) were identified in 11 and one patients, respectively.

Conclusion: The common founder mutations of involved genes in CMSs could be very rare among ethnic Iranian. Screening of the entire genes would be efficient to distinguish the specific mutations in specific ethnicity.

PMID: 31037086 [PubMed]