Guo Xuan, Zhao Zhe, Shen Hongrui, Bing Qi, Xie Shi, Hu Jing
Department of Neuromuscular Diseases, the Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jun 10;41(6):745-748. doi: 10.3760/cma.j.cn511374-20211229-01023.
To explore the genetic basis of a myopathic patient with pathological characteristics including tubular aggregates and vacuoles.
Next generation sequencing was carried out for the patient, and candidate variant was verified by Sanger sequencing.
Genetic testing revealed that the patient has harbored a heterozygous c.730G>C (p.D244H) variant of Calsequestrin 1 (CASQ1) gene. The same variant was not found in his unaffected parents. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was rated as pathogenic (PS1+PM2+PP3).
The novel c.730G>C (p.D244H) variant of the CASQ1 gene probably underlay the myopathy in this patient. Above finding has enriched the mutational spectrum of the CASQ1 gene.
