Detection and analysis of pathogenic variants in Chinese inherited cardiovascular disease patients using clinical whole-exome sequencing
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How to Cite

Cao, . L. ., Ye, F., Yu, C. ., Xie, S. ., Ba, Y., Zeng, Y., Weng, Q., Zhang, Z. ., & Zhang, H. . (2022). Detection and analysis of pathogenic variants in Chinese inherited cardiovascular disease patients using clinical whole-exome sequencing. American Journal of Translational Medicine, 6(2), 69-86. Retrieved from https://ajtm.journals.publicknowledgeproject.org/index.php/ajtm/article/view/2277

Abstract

Genetic testing based on next-generation sequencing technology has been gradually applied to precision medicine for inherited cardiovascular diseases (CVDs). However, the clinical application value of these methods has not been widely evaluated. Here, we show the clinical value of whole-exome sequencing in detecting and analyzing genetic risk factors for 12 CVD patients. Genetic testing identified 5 participants (41.6%) with a disease-associated variant (pathogenic or likely pathogenic), 1 (8.4%) with a variant of uncertain significance, and 6 (50.0%) with no suspicious variants, according to the classification criteria of the American College of Medical Genetics and Genomics. Five literature-annotated disease variants (PKP2 gene, c.148_151delACAG, NM_001005242; ABCC9 gene, c.3589C>T, NM_005691; PKP2 gene, c.1237C>T, NM_001005242; PKP2 gene, c.2490-6T>C, NM_001005242; and TNNT2 gene, c.650_652delAGA, NM_000364) and 1 novel variant (FBN1 gene, c.8286_8289delCATC, NM_000138) were found in our patients. Correlations between phenotypes and genetic variants were analyzed by genetic testing, clinical examinations, and variant-related research. Therefore, a more comprehensive genetic risk profile of each patient’s disease was obtained, and better clinical diagnosis and management were promoted.

(Am J Transl Med 2022. 6(2):69-86).

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