[Identification of a novel variant in a patient with Calsequestrin 1 related myopathy].

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.