{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T02:58:05Z","timestamp":1776135485706,"version":"3.50.1"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:00:00Z","timestamp":1756252800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:00:00Z","timestamp":1756252800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Hubei Province Health Commission General Project","award":["WJ2023M004"],"award-info":[{"award-number":["WJ2023M004"]}]},{"name":"Beijing Medical Award Foundation","award":["YXJL-2023-0866-0329"],"award-info":[{"award-number":["YXJL-2023-0866-0329"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"DOI":"10.1186\/s12882-025-04416-5","type":"journal-article","created":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:13:36Z","timestamp":1756275216000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Pathogenic synonymous variation of the COL4A3 gene causing Alport syndrome comorbid with IgA deposition in a toddler: a case report"],"prefix":"10.1186","volume":"26","author":[{"given":"Panpan","family":"Shao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenpei","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rongrong","family":"Xv","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonghua","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinbo","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueqing","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinyun","family":"Pu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianhua","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiqing","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liru","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,8,27]]},"reference":[{"key":"4416_CR1","unstructured":"OKA M, NOZU K FAU - KAITO H, KAITO H FAU -. FU X J,et al Natural history of genetically proven autosomal recessive Alport syndrome [J]. (1432-198X (Electronic))."},{"key":"4416_CR2","doi-asserted-by":"publisher","first-page":"838983","DOI":"10.3389\/fmed.2022.838983","volume":"9","author":"H DENG","year":"2022","unstructured":"DENG H, ZHANG Y, DING J, et al. Presumed COL4A3\/COL4A4 missense\/synonymous variants induce aberrant splicing [J]. Front Med. 2022;9:838983.","journal-title":"Front Med"},{"issue":"2","key":"4416_CR3","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1038\/s41581-020-0329-y","volume":"17","author":"M NAYLOR R W, MORAIS","year":"2021","unstructured":"NAYLOR R W, MORAIS M. Complexities of the glomerular basement membrane [J]. Nat Rev Nephrol. 2021;17(2):112\u201327.","journal-title":"Nat Rev Nephrol"},{"issue":"1","key":"4416_CR4","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1097\/00041552-199801000-00003","volume":"7","author":"JH MINER","year":"1998","unstructured":"MINER JH. Developmental biology of glomerular basement membrane components [J]. Curr Opin Nephrol Hypertens. 1998;7(1):13\u20139.","journal-title":"Curr Opin Nephrol Hypertens"},{"issue":"2","key":"4416_CR5","doi-asserted-by":"publisher","first-page":"75","DOI":"10.4161\/org.7.2.15275","volume":"7","author":"JH MINER","year":"2011","unstructured":"MINER JH. Organogenesis of the kidney glomerulus: focus on the glomerular basement membrane [J]. Organogenesis. 2011;7(2):75\u201382.","journal-title":"Organogenesis"},{"issue":"7","key":"4416_CR6","doi-asserted-by":"publisher","first-page":"1962","DOI":"10.1681\/ASN.2006020165","volume":"17","author":"JS KANG","year":"2006","unstructured":"KANG JS, WANG X P, MINER JH, et al. Loss of alpha3\/alpha4(IV) collagen from the glomerular basement membrane induces a strain-dependent isoform switch to alpha5alpha6(IV) collagen associated with longer renal survival in Col4a3-\/- Alport mice [J]. J Am Soc Nephrology: JASN. 2006;17(7):1962\u20139.","journal-title":"J Am Soc Nephrology: JASN"},{"issue":"9","key":"4416_CR7","doi-asserted-by":"publisher","first-page":"2719","DOI":"10.1007\/s00467-021-05040-9","volume":"36","author":"Y ZHANG","year":"2021","unstructured":"ZHANG Y, B\u00f6CKHAUS J, WANG F, et al. Genotype\u2013phenotype correlations and nephroprotective effects of RAAS Inhibition in patients with autosomal recessive Alport syndrome [J]. Pediatr Nephrol. 2021;36(9):2719\u201330.","journal-title":"Pediatr Nephrol"},{"issue":"4","key":"4416_CR8","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1111\/cge.14471","volume":"105","author":"H RIEDHAMMER K M, SIMMENDINGER","year":"2024","unstructured":"RIEDHAMMER K M, SIMMENDINGER H, TASIC V, et al. Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3\/COL4A4? [J]. Clin Genet. 2024;105(4):406\u201314.","journal-title":"Clin Genet"},{"issue":"5","key":"4416_CR9","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1016\/j.ekir.2021.02.022","volume":"6","author":"A CAMBIER","year":"2021","unstructured":"CAMBIER A, ROBERT T, HOGAN J, et al. Rare collagenous heterozygote variants in children with IgA nephropathy [J]. Kidney Int Rep. 2021;6(5):1326\u201335.","journal-title":"Kidney Int Rep"},{"issue":"7","key":"4416_CR10","doi-asserted-by":"publisher","first-page":"1503","DOI":"10.1681\/ASN.2014101000","volume":"26","author":"MAILLARD","year":"2015","unstructured":"MAILLARD, N, WYATT R J, JULIAN B A, et al. Current Understanding of the role of complement in IgA nephropathy [J]. J Am Soc Nephrology: JASN. 2015;26(7):1503\u201312.","journal-title":"J Am Soc Nephrology: JASN"},{"issue":"25","key":"4416_CR11","doi-asserted-by":"publisher","first-page":"11462","DOI":"10.7150\/thno.49778","volume":"10","author":"JW HE","year":"2020","unstructured":"HE JW, ZHOU X J, LV J C, et al. Perspectives on how mucosal immune responses, infections and gut Microbiome shape IgA nephropathy and future therapies [J]. Theranostics. 2020;10(25):11462\u201378.","journal-title":"Theranostics"},{"issue":"5","key":"4416_CR12","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/nrneph.2012.58","volume":"8","author":"LAI K N","year":"2012","unstructured":"LAI K N. Pathogenesis of IgA nephropathy [J]. Nat Rev Nephrol. 2012;8(5):275\u201383.","journal-title":"Nat Rev Nephrol"},{"key":"4416_CR13","doi-asserted-by":"crossref","unstructured":"CHEN YT, JIANG W Z, LU K D. Novel. COL4A3 synonymous mutation causes Alport syndrome coexistent with immunoglobulin A nephropathy in a woman: a case report [J]. World journal of clinical cases, 2023, 11(25): 5947-53.","DOI":"10.12998\/wjcc.v11.i25.5947"},{"key":"4416_CR14","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/j.humpath.2018.02.024","volume":"81","author":"G VISCHINI","year":"2018","unstructured":"VISCHINI G, KAPP M E, WHEELER F C, et al. A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome [J]. Hum Pathol. 2018;81:229\u201334.","journal-title":"Hum Pathol"},{"key":"4416_CR15","doi-asserted-by":"crossref","unstructured":"ROSSANTI R, HORINOUCHI T, YAMAMURA T, et al. Evaluation of suspected autosomal Alport syndrome synonymous variants [J]. Kidney360, 2022, 3(3): 497\u2013505.","DOI":"10.34067\/KID.0005252021"}],"container-title":["BMC Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-025-04416-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12882-025-04416-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-025-04416-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T18:50:11Z","timestamp":1757443811000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-025-04416-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,27]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["4416"],"URL":"https:\/\/doi.org\/10.1186\/s12882-025-04416-5","relation":{},"ISSN":["1471-2369"],"issn-type":[{"value":"1471-2369","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,27]]},"assertion":[{"value":"21 March 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 August 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 August 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was conducted according to the guidelines laid down in the Declaration of Helsinki. This research protocol was reviewed and approved by the Ethics Committee of Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology (No. TJ-IRB20231280).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics and consent to participate declarations"}},{"value":"No potential conflict of interest was reported by the author(s).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosure"}},{"value":"Written informed consent was obtained from the patient\u2019s parents for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor of this journal.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"493"}}