A NOVEL c.973G>T MUTATION IN THE ε-SUBUNIT OF THE ACETYLCHOLINE RECEPTOR CAUSING CONGENITAL MYASTHENIC SYNDROME IN AN IRANIAN FAMILY
Karimzadeh P1,2, Parvizi Omran S3, Ghaedi H4, Omrani MD4,*
*Corresponding Author: Mir Davood Omrani, Ph.D., Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar Street, Daneshjoo Boulevard, Evin, Chamran Highway, Tehran, Islamic Republic of Iran, 1985717443. E-mail: davood_omrani@sbmu.ac.ir
page: 95

REFERENCES

1. Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor-Wollman T, et al. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. Neuromuscul Disord. 2017; 27(2): 136-140. 2. Cruz PMR, Palace J, Beeson D. Congenital myasthenic syndromes and the neuromuscular junction. Curr Opin Neurol. 2014; 27(5): 566-575. 3. Abicht A, Dusl M, Gallenmüller C, Guergueltcheva V, Schara U, Della Marina A, et al. Congenital myasthenic syndromes: Achievements and limitations of phenotype guided gene after gene sequencing in diagnostic practice: A study of 680 patients. Hum Mutat. 2012; 33(10): 1474-1484. 4. Beeson D. Congenital myasthenic syndromes: Recent advances. Curr Opin Neurol. 2016; 29(5): 565-571. 5. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7(4): 248-249. 6. Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: Mutation prediction for the deepsequencing age. Nat Methods. 2014; 11(4): 361-362. 7. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003; 31(13): 3812-3814. 8. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier- Foster J, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5): 405-424. 9. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, et al. dbSNP: The NCBI database of genetic variation. Nucleic Acids Res. 2001; 29(1): 308-311. 10. Abecasis GR, Altshuler D, Authon A, Brooks LD, Durbin RM, Gibbs RA; 1000 Genomes Project Consortium, et al. A map of human genome variation from population-scale sequencing. Nature. 2010; 467(7319): 1061-1073. 11. Ohno K, Ohkawara B, Ito M. Recent advances in congenital myasthenic syndromes. Clin Exp Neuroimmunol. 2016; 7(3): 246-259. 12. McMacken G, Abicht A, Evangelista T, Spendiff S, Lochmüller H, Soltanzadeh A. The increasing genetic and phenotypical diversity of congenital myasthenic syndromes. Neuropediatrics. 2017; 48(04): 294-308. 13. Soltanzadeh P, Müller JS, Ghorbani A, Abicht A, Lochmüller H, Soltanzadeh A. An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). J Neurol Neurosurg Psychiatry. 2005; 76(7): 1039-1040. 14. Natera-de Benito D, Domínguez-Carral J, Muelas N, Nascimento A, Ortez C, Jaijo T, et al. Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up. Neuromuscul Disord. 2016; 26(11): 789-795. 15. Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, et al. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology. 2008; 71(24): 1967-1972.



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