Edizadeh Masoud, Vazehan Raheleh, Javadi Fatemeh, Dehdahsi Shima, Fadaee Mahsa, Faraji Zonooz Mehrshid, Parsimehr Elham, Ahangari Fatemeh, Abolhassani Ayda, Kalhor Zahra, Fattahi Zohreh, Beheshtian Maryam, Kariminejad Ariana, Akbari Mohammad Reza, Najmabadi Hossein, Nafissi Shahriar
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
Arch Iran Med. 2017 Sep;20(9):617-620.
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 CACNA1S-related disease spectrum to include normokalemic periodic paralysis.
电压依赖性L型钙通道α1S亚基（CACNA1S）基因编码一种骨骼Ca2+通道，该通道参与肌肉收缩和神经递质释放等钙依赖性过程。该基因的突变与低钾和正常血钾性周期性麻痹、甲状腺毒症性周期性麻痹以及恶性高热易感性有关。我们报告了一名被诊断为代谢性肌病患者的临床和基因检测结果，该患者有发作性肌肉疼痛和无力症状，但无该病家族史。使用针对代谢性肌病和肌强直基因的检测板进行的二代测序（NGS）在CACNA1S基因第30外显子中鉴定出一个新发杂合致病性变异c.3724A>G，p.Arg1242Gly。作为该变异的第二篇报道，该病例可能会扩大CACNA1S相关疾病谱，将正常血钾性周期性麻痹纳入其中。
