Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations
Abstract We sought to explore the relationship between renal lesion features and genetic mutations in tuberous sclerosis complex (TSC) patients. TSC patients with renal lesions were subjected to TSC1/2 gene next-generation sequencing (NGS). TSC1/2 mutation types and imaging examinations were screene...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2022-05-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000200104&tlng=en |
| _version_ | 1818213501498294272 |
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| author | Wenda Wang Yang Zhao Xu Wang Zhan Wang Yi Cai Hanzhong Li Yushi Zhang |
| author_facet | Wenda Wang Yang Zhao Xu Wang Zhan Wang Yi Cai Hanzhong Li Yushi Zhang |
| author_sort | Wenda Wang |
| collection | DOAJ |
| description | Abstract We sought to explore the relationship between renal lesion features and genetic mutations in tuberous sclerosis complex (TSC) patients. TSC patients with renal lesions were subjected to TSC1/2 gene next-generation sequencing (NGS). TSC1/2 mutation types and imaging examinations were screened for combined analysis of genetic and clinical features. Seventy-three probands among TSC patients with renal lesions were included. Twenty affected relatives were also included. In total, 93 patients were included. Eighty patients (86.0%) had bilateral renal angiomyolipomas (AMLs), and one had epithelioid AML. Two patients had polycystic kidney disease, one had renal cell carcinoma, and one had Wilms tumor. Among the 73 probands, four had TSC1 mutations, 53 had TSC2 mutations, and 16 had no mutations identified (NMI). There was no statistically significant difference between TSC1 mutation, TSC2 mutation and NMI group (P= 0.309), or between familial and sporadic groups (P= 0.775) when considering AML size. There was no statistically significant difference between pathogenic/likely pathogenic and benign/likely benign/NMI groups (P= 0.363) or among patients with different mutation types of TSC2 (P= 0.906). The relationship between the conditions of TSC gene mutations and the severity of renal lesions still needs more analysis. Patients with NMI, particularly those with familial disease, need more attention because the pathogenesis remains unknown. |
| first_indexed | 2024-12-12T06:05:18Z |
| format | Article |
| id | doaj.art-1915aa047b4e402e95c80b286a1ab649 |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-12-12T06:05:18Z |
| publishDate | 2022-05-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-1915aa047b4e402e95c80b286a1ab6492022-12-22T00:35:17ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852022-05-0145210.1590/1678-4685-gmb-2020-0387Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutationsWenda WangYang ZhaoXu WangZhan WangYi CaiHanzhong LiYushi Zhanghttps://orcid.org/0000-0002-8058-9702Abstract We sought to explore the relationship between renal lesion features and genetic mutations in tuberous sclerosis complex (TSC) patients. TSC patients with renal lesions were subjected to TSC1/2 gene next-generation sequencing (NGS). TSC1/2 mutation types and imaging examinations were screened for combined analysis of genetic and clinical features. Seventy-three probands among TSC patients with renal lesions were included. Twenty affected relatives were also included. In total, 93 patients were included. Eighty patients (86.0%) had bilateral renal angiomyolipomas (AMLs), and one had epithelioid AML. Two patients had polycystic kidney disease, one had renal cell carcinoma, and one had Wilms tumor. Among the 73 probands, four had TSC1 mutations, 53 had TSC2 mutations, and 16 had no mutations identified (NMI). There was no statistically significant difference between TSC1 mutation, TSC2 mutation and NMI group (P= 0.309), or between familial and sporadic groups (P= 0.775) when considering AML size. There was no statistically significant difference between pathogenic/likely pathogenic and benign/likely benign/NMI groups (P= 0.363) or among patients with different mutation types of TSC2 (P= 0.906). The relationship between the conditions of TSC gene mutations and the severity of renal lesions still needs more analysis. Patients with NMI, particularly those with familial disease, need more attention because the pathogenesis remains unknown.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000200104&tlng=enTuberous sclerosis complex (TSC)renal lesionsTSC1 mutationsTSC2 mutations |
| spellingShingle | Wenda Wang Yang Zhao Xu Wang Zhan Wang Yi Cai Hanzhong Li Yushi Zhang Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations Genetics and Molecular Biology Tuberous sclerosis complex (TSC) renal lesions TSC1 mutations TSC2 mutations |
| title | Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations |
| title_full | Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations |
| title_fullStr | Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations |
| title_full_unstemmed | Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations |
| title_short | Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations |
| title_sort | analysis of renal lesions in chinese tuberous sclerosis complex patients with different types of tsc gene mutations |
| topic | Tuberous sclerosis complex (TSC) renal lesions TSC1 mutations TSC2 mutations |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572022000200104&tlng=en |
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