摘要目的:对1例骨骼肌活检以空泡及类似管聚集现象为特征性表现的肌病患者进行基因变异分析，明确其遗传学病因。方法:以。年。月。日就诊于河北医科大学第三医院的1例肌病患者作为研究对象。对患者进行高通量测序，并通过Sanger测序对结果进行验证。结果:高通量测序显示患者集钙蛋白-1(calsequestrin-1， CASQ1)基因存在c.730G>C(p.D244H)杂合变异，其父母均未携带相同的变异。根据美国医学遗传学与基因组学学会相关指南，判定该变异为致病性(PS1＋PM2＋PP3)。 结论:CASQ1基因c.730G>C(p.D244H)杂合错义变异可能是本研究患者的遗传学病因，新变异的检出丰富了 CASQ1基因的变异谱。

abstractsObjective: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.