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

ABSTRACT

OBJECTIVE: To explore the genetic basis of a myopathic patient with pathological characteristics including tubular aggregates and vacuoles. METHODS: Next generation sequencing was carried out for the patient, and candidate variant was verified by Sanger sequencing. RESULTS: 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). CONCLUSION: 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.