{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T10:10:43Z","timestamp":1768990243337,"version":"3.49.0"},"reference-count":31,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T00:00:00Z","timestamp":1746748800000},"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>There is a lack of awareness of the diagnosis and treatment of <jats:italic>MYH9<\/jats:italic>-related disorder (<jats:italic>MYH9<\/jats:italic>-RD), which is an autosomal dominant disease with heterogeneous clinical manifestations. We summarized the clinical phenotype and reported a <jats:italic>novel<\/jats:italic> variant in <jats:italic>MYH9<\/jats:italic> in a child with focal segmental glomerulosclerosis (FSGS) and reviewed the relevant literature to better understand <jats:italic>MYH9<\/jats:italic>-RD. Unlike previous cases, this patient exhibited IgA deposition in the mesangial region, suggesting need for further investigation into prognostic and therapeutic significance of this finding. To reduce the risk of <jats:italic>MYH9<\/jats:italic>-RD misdiagnosis, we recommend assessing mean platelet diameter and granulocyte inclusions in patients with unexplained proteinuria and refractory thrombocytopenia.<\/jats:p>","DOI":"10.3389\/fped.2025.1502727","type":"journal-article","created":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T04:10:50Z","timestamp":1746763850000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel variant in MYH9 in a child with proteinuria and thrombocytopenia: a case report and literature review"],"prefix":"10.3389","volume":"13","author":[{"given":"Dan-Feng","family":"Xie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Meng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,5,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1016\/j.gene.2018.04.048","article-title":"MYH9: structure, functions and role of non-muscle myosin IIA in human disease","volume":"664","author":"Pecci","year":"2018","journal-title":"Gene"},{"key":"B2","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1093\/ckj\/sfz103","article-title":"MYH9-related Disease: it does exist, may be more frequent than you think and requires specific therapy","volume":"12","author":"Fernandez-Prado","year":"2019","journal-title":"Clin Kidney J"},{"key":"B3","doi-asserted-by":"publisher","first-page":"729","DOI":"10.3892\/ijmm.17.5.729","article-title":"Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease","volume":"17","author":"Marini","year":"2006","journal-title":"Int J Mol Med"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1125","DOI":"10.1016\/j.ygeno.2003.12.012","article-title":"Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains","volume":"83","author":"Marigo","year":"2004","journal-title":"Genomics"},{"key":"B5","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG laboratory quality assurance committee. 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