| Autor: |
Yi Chen, Yuanzhen Zhang, Jun Huang, Yugui Zeng, Yifang Qian, Junyan Chen, Guangming Chen, Guizhi Xia, Chengfeng Wang, Ai Feng, Zheng Li, Li Chen, Sirui Zheng, Fenrong Li, Zengfeng Weng, Chuanyin Zhang, Yuen Yang, Jinfeng Lin, Jinrong Wu, Hannan Zhang, Wenhua Ouyang, Xiaojing Nie |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2324-9269 |
| DOI: |
10.1002/mgg3.2163 |
| Popis: |
Abstract Background Kidney disease of children markedly affects their health and development. Limited clinical data of early‐stage kidney disease render a tremendous challenge for the accurate diagnosis. Trio whole‐exome sequencing (Trio‐WES) is emerging as a first‐line diagnostic strategy in pediatric kidney disease, and shows important implications for the precision medicine strategies of children with kidney disease. Methods Trio‐WES was performed in 133 Chinese children with kidney disease and their parents. The results for casual variants in genes known to cause kidney disease were analyzed. We further assessed the genetic diagnostic yield and the clinical implications of genetic testing. Results An overall diagnostic yield of 52.63% (70/133) was found, and the diagnostic rates ranged from 44.74% to 59.62% in different clinical phenotypes. The diagnostic yield of the three groups of simple proteinuria, renal insufficiency, and “other” was 50%, 50%, and 54.55%, respectively. Eight‐seven diagnostic variants were identified in 70 probands with variants spanning 30 genes. The top 7 genes with diagnostic variants were COL4A5 (23, 26.44%), COL4A4 (13, 14.94%), ADCK4 (7, 8.05%), CLCN5 (3, 3.45%), ACE (3, 3.45%), PKD1 (3, 3.45%), and SLC12A3 (3, 3.45%), accounting for 63.22% of all variations in the cohort. Conclusions The retrospective cohort study summarized the clinical utility of genetic testing in 133 probands, and expanded the phenotypic and genetic profiles of kidney disease in children. Trio‐WES is an efficient diagnostic tool for children with kidney disease, which facilitates the clinical diagnosis and treatment. Our findings have important implications for the precise diagnosis of childhood nephropathy and may provide clinical guideline for disease management. |
| Databáze: |
Directory of Open Access Journals |
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