Back to Search
Start Over
[Identification of a novel variant in a patient with Calsequestrin 1 related myopathy].
- Source :
-
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jun 10; Vol. 41 (6), pp. 745-748. - Publication Year :
- 2024
-
Abstract
- Objective: To explore the genetic basis of a myopathic patient with pathological characteristics including tubular aggregates and vacuoles.<br />Methods: Next generation sequencing was carried out for the patient, and candidate variant was verified by Sanger sequencing.<br />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).<br />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.
Details
- Language :
- Chinese
- ISSN :
- 1003-9406
- Volume :
- 41
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 38818562
- Full Text :
- https://doi.org/10.3760/cma.j.cn511374-20211229-01023