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De Novo Mutation in Cacna1s Gene in a 20-Year-Old Man Diagnosed With Metabolic Myopathy Pubmed



Edizadeh M1 ; Vazehan R2 ; Javadi F1 ; Dehdahsi S1 ; Fadaee M2 ; Zonooz MF2 ; Parsimehr E2 ; Ahangari F2 ; Abolhassani A2 ; Kalhor Z2 ; Fattahi Z1, 2 ; Beheshtian M1, 2 ; Kariminejad A2 ; Akbari MR3, 4 Show All Authors
Authors
  1. Edizadeh M1
  2. Vazehan R2
  3. Javadi F1
  4. Dehdahsi S1
  5. Fadaee M2
  6. Zonooz MF2
  7. Parsimehr E2
  8. Ahangari F2
  9. Abolhassani A2
  10. Kalhor Z2
  11. Fattahi Z1, 2
  12. Beheshtian M1, 2
  13. Kariminejad A2
  14. Akbari MR3, 4
  15. Najmabadi H1, 2, 6
  16. Nafissi S5
Show Affiliations
Authors Affiliations
  1. 1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  2. 2. Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
  3. 3. Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada
  4. 4. Women’s College Hospital, University of Toronto, Toronto, ON, Canada
  5. 5. Iranian Center of Neurological Research, Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Kariminejad-Najmabadi Pathology and Genetics Center, #2, Fourth St., HasanSeyf Ave., Sanat Sq., Shahrak Gharb, Tehran, Iran

Source: Archives of Iranian Medicine Published:2017


Abstract

The calcium channel, voltage-dependent, L-type, alpha 1S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent processes such as muscle contraction and neurotransmitter release. Mutations in this gene have been accompanied by hypo- and normokalemic periodic paralysis, thyrotoxic periodic paralysis, and susceptibility to malignant hyperthermia. We report the clinical and genetic findings in a patient diagnosed with metabolic myopathy who had episodic attacks of muscle pain and weakness but with no family background of the disease. Next-generation sequencing (NGS) using a panel targeting metabolic myopathy and myotonia genes identified a de novo heterozygous pathogenic variant c.3724A>G, p.Arg1242Gly, in exon 30 of CACNA1S. As the second report of this variant, this case may broaden the CACNAIS-related disease spectrum to include normokalemic periodic paralysis. © 2017, Academy of Medical Sciences of I.R. Iran. All rights reserved.
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