{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T09:05:12Z","timestamp":1759482312449,"version":"3.41.2"},"reference-count":8,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,11,11]],"date-time":"2021-11-11T00:00:00Z","timestamp":1636588800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>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 <jats:italic>TBC1D8B<\/jats:italic> 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 <jats:italic>TBC1D8B<\/jats:italic> gene on the X chromosome, c.2717A&amp;gt;G (p.His906Arg). After routine glucocorticoid therapy, his urine protein turned negative, indicating steroid-sensitive NS. The new <jats:italic>TBC1D8B<\/jats:italic> variant identified here, c.2717A&amp;gt;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.<\/jats:p>","DOI":"10.3389\/fped.2021.732512","type":"journal-article","created":{"date-parts":[[2021,11,11]],"date-time":"2021-11-11T08:00:25Z","timestamp":1636617625000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report"],"prefix":"10.3389","volume":"9","author":[{"given":"Ling","family":"Hou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Yin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yubin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengguang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,11,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1760","DOI":"10.2215\/CJN.00380116","article-title":"Ethnic differences in incidence and outcomes of childhood nephrotic syndrome","volume":"11","author":"Banh","year":"2016","journal-title":"Clin J Am Soc Nephrol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"39","DOI":"10.3389\/fped.2016.00039","article-title":"Ethnic differences in childhood nephrotic syndrome","volume":"4","author":"Chanchlani","year":"2016","journal-title":"Front Pediatr."},{"key":"B3","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/S0140-6736(18)30536-1","article-title":"Idiopathic nephrotic syndrome in children","volume":"392","author":"Noone","year":"2018","journal-title":"Lancet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1007\/s00431-011-1668-2","article-title":"Educational paper: the podocytopathies","volume":"171","author":"B\u00fcscher","year":"2012","journal-title":"Eur J Pediatr."},{"key":"B5","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1016\/j.ajhg.2018.12.016","article-title":"TBC1D8B loss-of-function mutations lead to X-linked nephrotic syndrome via defective trafficking pathways","volume":"104","author":"Dorval","year":"2019","journal-title":"Am J Hum Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"2338","DOI":"10.1681\/ASN.2019040414","article-title":"TBC1D8B mutations implicate RAB11-dependent vesicular trafficking in the pathogenesis of nephrotic syndrome","volume":"30","author":"Kampf","year":"2019","journal-title":"J Am Soc Nephrol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1042\/BSR20100112","article-title":"TBC proteins: GAPs for mammalian small GTPase Rab?","volume":"31","author":"Fukuda","year":"2011","journal-title":"Biosci Rep."},{"key":"B8","doi-asserted-by":"publisher","first-page":"17079","DOI":"10.1073\/pnas.0607465103","article-title":"Podocin and MEC-2 bind cholesterol to regulate the activity of associated ion channels","volume":"103","author":"Huber","year":"2006","journal-title":"Proc Natl Acad Sci U S A."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.732512\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,11]],"date-time":"2021-11-11T08:00:26Z","timestamp":1636617626000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.732512\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,11]]},"references-count":8,"alternative-id":["10.3389\/fped.2021.732512"],"URL":"https:\/\/doi.org\/10.3389\/fped.2021.732512","relation":{},"ISSN":["2296-2360"],"issn-type":[{"type":"electronic","value":"2296-2360"}],"subject":[],"published":{"date-parts":[[2021,11,11]]},"article-number":"732512"}}