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...

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Autores principales:	Ling Hou, Lu Yin, Yubin Wu, Chengguang Zhao, Yue Du
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	nephrotic syndrome TBC1D8B podocyte slit diaphragm protein steroid-sensitive nephrotic syndrome steroid-resistant nephrotic syndrome Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/b8542dbe626f481ca307a2b15a7ac6a6
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spelling	oai:doaj.org-article:b8542dbe626f481ca307a2b15a7ac6a62021-11-11T08:00:26ZNovel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report2296-236010.3389/fped.2021.732512https://doaj.org/article/b8542dbe626f481ca307a2b15a7ac6a62021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.732512/fullhttps://doaj.org/toc/2296-2360A 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.Ling HouLu YinYubin WuChengguang ZhaoYue DuFrontiers Media S.A.articlenephrotic syndromeTBC1D8Bpodocyte slit diaphragm proteinsteroid-sensitive nephrotic syndromesteroid-resistant nephrotic syndromePediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	nephrotic syndrome TBC1D8B podocyte slit diaphragm protein steroid-sensitive nephrotic syndrome steroid-resistant nephrotic syndrome Pediatrics RJ1-570
spellingShingle	nephrotic syndrome TBC1D8B podocyte slit diaphragm protein steroid-sensitive nephrotic syndrome steroid-resistant nephrotic syndrome Pediatrics RJ1-570 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
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.
format	article
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
title	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_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_sort	novel tbc1d8b variant in a 6-month-old boy with steroid-sensitive nephrotic syndrome: a case report
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/b8542dbe626f481ca307a2b15a7ac6a6
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Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report

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