Related Experiment Video
Updated: May 5, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Identification of a novel variant in a patient with Calsequestrin 1 related myopathy]
Xuan Guo1, Zhe Zhao, Hongrui Shen
1Department of Neuromuscular Diseases, the Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051, China. jinghu5510@163.com.
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.
More Related Videos
07:15Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
