Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report
A structural abnormality or dysfunction of podocytes is the major cause of nephrotic syndrome (NS). The TBC1D8B protein interacts with nephrin, a podocyte slit diaphragm protein, regulates vesicle transport, and functions in the pathogenesis of NS. We report a novel potentially pathogenic variant in...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-11-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2021.732512/full |
| _version_ | 1818752098032943104 |
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| author | Ling Hou Lu Yin Yubin Wu Chengguang Zhao Yue Du |
| author_facet | Ling Hou Lu Yin Yubin Wu Chengguang Zhao Yue Du |
| author_sort | Ling Hou |
| collection | DOAJ |
| description | A structural abnormality or dysfunction of podocytes is the major cause of nephrotic syndrome (NS). The TBC1D8B protein interacts with nephrin, a podocyte slit diaphragm protein, regulates vesicle transport, and functions in the pathogenesis of NS. We report a novel potentially pathogenic variant in the TBC1D8B gene in a 6-month-old boy with NS. A 6-month-old boy was admitted to the hospital because of edema and fever. Our systematic examination led to a diagnosis of NS. Because of the early age of onset, we performed trio whole-exome sequencing of him and his parents. The results showed a new potentially pathogenic variant in the TBC1D8B gene on the X chromosome, c.2717A>G (p.His906Arg). After routine glucocorticoid therapy, his urine protein turned negative, indicating steroid-sensitive NS. The new TBC1D8B variant identified here, c.2717A>G (p.His906Arg), may be associated with early-onset NS in children. Although NS due to pathogenic variants in this gene is more commonly steroid-resistant, our patient had steroid-sensitive NS. |
| first_indexed | 2024-12-18T04:46:03Z |
| format | Article |
| id | doaj.art-b8542dbe626f481ca307a2b15a7ac6a6 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-18T04:46:03Z |
| publishDate | 2021-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-b8542dbe626f481ca307a2b15a7ac6a62022-12-21T21:20:35ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602021-11-01910.3389/fped.2021.732512732512Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case ReportLing HouLu YinYubin WuChengguang ZhaoYue DuA structural abnormality or dysfunction of podocytes is the major cause of nephrotic syndrome (NS). The TBC1D8B protein interacts with nephrin, a podocyte slit diaphragm protein, regulates vesicle transport, and functions in the pathogenesis of NS. We report a novel potentially pathogenic variant in the TBC1D8B gene in a 6-month-old boy with NS. A 6-month-old boy was admitted to the hospital because of edema and fever. Our systematic examination led to a diagnosis of NS. Because of the early age of onset, we performed trio whole-exome sequencing of him and his parents. The results showed a new potentially pathogenic variant in the TBC1D8B gene on the X chromosome, c.2717A>G (p.His906Arg). After routine glucocorticoid therapy, his urine protein turned negative, indicating steroid-sensitive NS. The new TBC1D8B variant identified here, c.2717A>G (p.His906Arg), may be associated with early-onset NS in children. Although NS due to pathogenic variants in this gene is more commonly steroid-resistant, our patient had steroid-sensitive NS.https://www.frontiersin.org/articles/10.3389/fped.2021.732512/fullnephrotic syndromeTBC1D8Bpodocyte slit diaphragm proteinsteroid-sensitive nephrotic syndromesteroid-resistant nephrotic syndrome |
| spellingShingle | Ling Hou Lu Yin Yubin Wu Chengguang Zhao Yue Du Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report Frontiers in Pediatrics nephrotic syndrome TBC1D8B podocyte slit diaphragm protein steroid-sensitive nephrotic syndrome steroid-resistant nephrotic syndrome |
| title | Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report |
| title_full | Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report |
| title_fullStr | Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report |
| title_full_unstemmed | Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report |
| title_short | Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report |
| title_sort | novel tbc1d8b variant in a 6 month old boy with steroid sensitive nephrotic syndrome a case report |
| topic | nephrotic syndrome TBC1D8B podocyte slit diaphragm protein steroid-sensitive nephrotic syndrome steroid-resistant nephrotic syndrome |
| url | https://www.frontiersin.org/articles/10.3389/fped.2021.732512/full |
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