Analysis of Whole Exome Sequencing Result in Adult Genetic Diseases
10.3760/cma.j.cn114452-20240223-00093
- VernacularTitle:全外显子组测序技术在成人遗传病中的应用
- Author:
Li ZHANG
1
;
Yaoyi GAO
;
Li YU
;
Xianhong SHU
;
Jingmin ZHOU
;
Jing DING
;
Chunjiu ZHONG
;
Chunyan ZHAN
;
Baishen PAN
;
Beili WANG
;
Wei GUO
Author Information
1. 复旦大学附属中山医院检验科，上海 200032
- Keywords:
Whole exome sequencing;
Gene diagnosis;
Genetic diseases
- From:
Chinese Journal of Laboratory Medicine
2024;47(10):1192-1196
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the effectiveness and feasibility of whole exome sequencing (WES), as a molecular diagnosis technique, for adult patients with genetic diseases.Methods:The present retrospective analysis included 445 adult patients (ages 18-80 years) with suspected genetic diseases who underwent whole exome sequencing (WES) from August 2021 to December 2022. The pathogenicity classification of each variant was assessed in accordance with the recommendations developed by the American Society of Medical Genetics and Genomics.Results:The overall positive rate of WES among adult patients with suspected genetic diseases was 28.08% (125/445). The highest positive rate was observed in the age group of 41-50 years (34.33%, 23/67). Among the diagnosed genetic diseases, those affecting the cardiovascular system (63.16%, 84/133), nervous system (18.05%, 24/133), and endocrine system (13.53%, 18/133) ranked as the top three. The most common genetic diseases identified through WES in adult patients were hypertrophic cardiomyopathy (18.80%, 25/133), dilated cardiomyopathy (16.54%, 22/133), Marfan syndrome (15.04%, 20/133), epilepsy (9.02%, 12/133), and familial hypercholesterolemia (4.51%, 6/133). The main causative genes identified included FBN1 (14.29%, 19/133), MYBPC3 (9.02%, 12/133), MYH7 (9.02%, 12/133), LDLR (3.76%, 5/133), TTN (3.76%, 5/133), and TNNI3 (3.01%, 4/133).Conclusion:Applying the WES technique in clinical practice can improve the diagnostic rate of adult genetic diseases, especially in adult patients with suspected genetic conditions involving the cardiovascular system, nervous system, and endocrine system.
