{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T16:49:50Z","timestamp":1776444590648,"version":"3.51.2"},"reference-count":25,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T00:00:00Z","timestamp":1763683200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T00:00:00Z","timestamp":1763683200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron"],"abstract":"<jats:p>&lt;p&gt;Introduction: Type IV collagen trimers are major structural components of the kidney glomeruli and tubules. Several loss-of-function COL4A1 and COL4A2 variants have been reported to cause cerebral small vessel disease. However, there is little evidence to suggest that loss-of-function variants in these genes can cause kidney disease. Case Presentation: Here we report a case of a patient with thin basement membrane nephropathy and chronic kidney disease (CKD) who was found to bear a 1.9 Mb heterozygous contiguous gene deletion of chromosome 13q33.3-q34 that includes COL4A1 and a large region of COL4A2. Conclusion: We propose that haploid expression of COL4A1 in combination with COL4A2 can lead to thin basement membrane nephropathy and CKD. &lt;\/p&gt;<\/jats:p>","DOI":"10.1159\/000549595","type":"journal-article","created":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T17:01:57Z","timestamp":1763744517000},"page":"238-243","source":"Crossref","is-referenced-by-count":0,"title":["Contiguous Gene Deletion Involving COL4A1 and COL4A2 in a Patient with Thin Basement Membrane Nephropathy: A Case Report"],"prefix":"10.1159","volume":"150","author":[{"given":"Marc","family":"Henein","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6489-5817","authenticated-orcid":false,"given":"Felicia","family":"Russo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"Bernard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrey V.","family":"Cybulsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1537-5237","authenticated-orcid":false,"given":"Thomas M.","family":"Kitzler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2025,11,21]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gft253"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22682"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.20"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2007040444"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450115"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2018020200"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.210"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12379"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-02042-4"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33659"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.10.004"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2014121217"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s40620-020-00898-8"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2016.08.005"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds436"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/uog.24885"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2017.11.015"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1992.269"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01037"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa071906"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-106896"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra022296"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002\/jemt.20564"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfw051"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1126\/science.1109418"}],"container-title":["Nephron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000549595","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T16:01:38Z","timestamp":1776441698000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000549595"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,21]]},"references-count":25,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,4,17]]},"published-print":{"date-parts":[[2026,4,22]]}},"URL":"https:\/\/doi.org\/10.1159\/000549595","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.30664877","asserted-by":"subject"}]},"ISSN":["1660-8151","2235-3186"],"issn-type":[{"value":"1660-8151","type":"print"},{"value":"2235-3186","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,21]]}}}