MUTATION ANALYSIS IN EXONS 22 AND 24 OF SCN4A GENE IN IRANIAN PATIENTS WITH NON-DYSTROPHIC MYOTONIA

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HEIDARI MOHAMMAD MEHDI; KHATAMI MEHRI; NAFISSI SHAHRIAR; HESAMI ZOKAI FAEZEH; KHORRAMI AFSHIN

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Journal: Current Journal of Neurology Year:2015 | Volume:14 | Issue:4 Page(s): 190-194

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Title

MUTATION ANALYSIS IN EXONS 22 AND 24 OF SCN4A GENE IN IRANIAN PATIENTS WITH NON-DYSTROPHIC MYOTONIA

Author(s)

Keywords

NONDYSTROPHIC MYOTONIA

MUTATION

SCN4A

POLYMERASE CHAIN REACTION-SINGLE STRAND CONFORMATIONAL POLYMORPHISM

Abstract

Background: Non-dystrophic myotonias are a heterogeneous set of skeletal, muscular channelopathies, which have been associated with point MUTATIONs within sodium channel a-subunit (SCN4A) gene. Because exons 22 and 24 of SCN4A gene are recognized as hot spots for this disease, the purpose of the study is to identify MUTATION in exons 22 and 24 of SCN4A gene in Iranian non-dystrophic myotonias patients.Methods: In this study, 28 Iranian patients with NONDYSTROPHIC MYOTONIA analyzed for the MUTATION scanning in exons 22 and 24 of SCN4A gene by POLYMERASE CHAIN REACTION-SINGLE STRAND CONFORMATIONAL POLYMORPHISM (PCR-SSCP) and sequencing. Results: We found 29073G>C substitution in SCN4A gene in one case and 31506A>G substitution in seven cases. The 29073G>C substitution causes a missense MUTATION G1306A, located in the conserved cytoplasmic loop connecting repeat III and IV of the SCN4A channel but, 31506A>G substitution do not alter amino acid in SCN4A protein.Conclusion: G1306A residue is located in functionally important protein region. In “hinged-lid model” for Na+ channel inactivation in which glycines1306 act as the hinge of the lid occluding the channel pore. MUTATION in this region slowed fast inactivation. Therefore, it might be a pathogenic MUTATION. The causal relationship of this MUTATION with the disease is an object for further discussion.

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APA: Copy

HEIDARI, MOHAMMAD MEHDI, KHATAMI, MEHRI, NAFISSI, SHAHRIAR, HESAMI ZOKAI, FAEZEH, & KHORRAMI, AFSHIN. (2015). MUTATION ANALYSIS IN EXONS 22 AND 24 OF SCN4A GENE IN IRANIAN PATIENTS WITH NON-DYSTROPHIC MYOTONIA. CURRENT JOURNAL OF NEUROLOGY (IRANIAN JOURNAL OF NEUROLOGY), 14(4), 190-194. SID. https://sid.ir/paper/664549/en

Vancouver: Copy

HEIDARI MOHAMMAD MEHDI, KHATAMI MEHRI, NAFISSI SHAHRIAR, HESAMI ZOKAI FAEZEH, KHORRAMI AFSHIN. MUTATION ANALYSIS IN EXONS 22 AND 24 OF SCN4A GENE IN IRANIAN PATIENTS WITH NON-DYSTROPHIC MYOTONIA. CURRENT JOURNAL OF NEUROLOGY (IRANIAN JOURNAL OF NEUROLOGY)[Internet]. 2015;14(4):190-194. Available from: https://sid.ir/paper/664549/en

IEEE: Copy

MOHAMMAD MEHDI HEIDARI, MEHRI KHATAMI, SHAHRIAR NAFISSI, FAEZEH HESAMI ZOKAI, and AFSHIN KHORRAMI, “MUTATION ANALYSIS IN EXONS 22 AND 24 OF SCN4A GENE IN IRANIAN PATIENTS WITH NON-DYSTROPHIC MYOTONIA,” CURRENT JOURNAL OF NEUROLOGY (IRANIAN JOURNAL OF NEUROLOGY), vol. 14, no. 4, pp. 190–194, 2015, [Online]. Available: https://sid.ir/paper/664549/en

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