Identification of a novel variant in a patient with Calsequestrin 1 related myopathy
10.3760/cma.j.cn511374-20211229-01023
- VernacularTitle:集钙蛋白1相关肌病患者1例的基因变异分析
- Author:
Xuan GUO
1
;
Zhe ZHAO
;
Hongrui SHEN
;
Qi BING
;
Shi XIE
;
Jing HU
Author Information
1. 河北医科大学第三医院神经肌肉病科，石家庄 050051
- Keywords:
Vacuoles myopathy;
Tubular aggregates;
Calsequestrin 1;
Exercise intolerance;
hyperCKaemia
- From:
Chinese Journal of Medical Genetics
2024;41(6):745-748
- CountryChina
- Language:Chinese
-
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.
