Xuan Guo, Zhe Zhao, Hongrui Shen, Qi Bing, Shi Xie, Jing Hu
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引用次数: 0
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.
目的方法：对一名具有管状聚集体和空泡等病理特征的肌病患者进行新一代测序，并通过桑格测序验证候选变体：方法：对患者进行新一代测序，并通过桑格测序验证候选变异：结果：基因检测显示，该患者携带钙调素1（CASQ1）基因的c.730G>C（p.D244H）杂合子变异。在他未受影响的父母中未发现相同的变异。根据美国医学遗传学和基因组学学院（American College of Medical Genetics and Genomics）的指南，该变异被评为致病性（PS1+PM2+PP3）：结论：CASQ1 基因的新型 c.730G>C (p.D244H) 变异可能是该患者肌病的基础。上述发现丰富了 CASQ1 基因的变异谱。
期刊介绍：
Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry.
Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.
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