{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T21:01:22Z","timestamp":1784581282902,"version":"3.55.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T00:00:00Z","timestamp":1775865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002997","name":"Nierstichting Nederland","doi-asserted-by":"publisher","award":["19OP020"],"award-info":[{"award-number":["19OP020"]}],"id":[{"id":"10.13039\/501100002997","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["kireports.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Kidney International Reports"],"published-print":{"date-parts":[[2026,7]]},"DOI":"10.1016\/j.ekir.2026.106553","type":"journal-article","created":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T15:33:55Z","timestamp":1776872035000},"page":"106553","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome"],"prefix":"10.1016","volume":"11","author":[{"given":"Dipti","family":"Rao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bartholomeus T.","family":"van den Berge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke T.","family":"Vulto-van Silfhout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilse M.","family":"Rood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna A.E.","family":"van Wijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arend","family":"B\u00f6kenkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Layla","family":"Damen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Rump","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper J.","family":"van der Smagt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jitske","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Smeets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack F.","family":"Wetzels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rutger J.","family":"Maas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"van Geel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ekir.2026.106553_bib1","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1053\/j.ajkd.2020.03.026","article-title":"Alport syndrome: achieving early diagnosis and treatment","volume":"77","author":"Kashtan","year":"2021","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.ekir.2026.106553_bib2","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1007\/s10157-018-1629-4","article-title":"A review of clinical characteristics and genetic backgrounds in Alport syndrome","volume":"23","author":"Nozu","year":"2019","journal-title":"Clin Exp Nephrol"},{"key":"10.1016\/j.ekir.2026.106553_bib3","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1097\/MNH.0000000000000983","article-title":"Alport syndrome and Alport kidney diseases - elucidating the disease spectrum","volume":"33","author":"Puapatanakul","year":"2024","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"10.1016\/j.ekir.2026.106553_bib4","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/s00467-011-1836-7","article-title":"Women and Alport syndrome","volume":"27","author":"Rheault","year":"2012","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ekir.2026.106553_bib5","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1007\/s00467-018-3985-4","article-title":"Expert consensus guidelines for the genetic diagnosis of Alport syndrome","volume":"34","author":"Savige","year":"2019","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ekir.2026.106553_bib6","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.3390\/biomedicines12061159","article-title":"Exploration of gene therapy for Alport syndrome","volume":"12","author":"Zhao","year":"2024","journal-title":"Biomedicines"},{"key":"10.1016\/j.ekir.2026.106553_bib7","doi-asserted-by":"crossref","first-page":"143","DOI":"10.2215\/CJN.04230321","article-title":"Guidelines for genetic testing and management of Alport syndrome","volume":"17","author":"Savige","year":"2022","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2026.106553_bib8","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1093\/ndt\/gfae265","article-title":"Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN","volume":"40","author":"Torra","year":"2024","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ekir.2026.106553_bib9","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0178630","article-title":"Alport syndrome cold cases: missing mutations identified by exome sequencing and functional analysis","volume":"12","author":"Chiereghin","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.ekir.2026.106553_bib10","doi-asserted-by":"crossref","first-page":"2740","DOI":"10.1681\/ASN.2013080912","article-title":"Improving mutation screening in familial hematuric nephropathies through next generation sequencing","volume":"25","author":"Moriniere","year":"2014","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2026.106553_bib11","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1038\/s41431-021-00858-1","article-title":"Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria","volume":"29","author":"Savige","year":"2021","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ekir.2026.106553_bib12","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.kint.2023.05.006","article-title":"A wave of deep intronic mutations in X-linked Alport syndrome","volume":"104","author":"Boisson","year":"2023","journal-title":"Kidney Int"},{"key":"10.1016\/j.ekir.2026.106553_bib13","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1007\/s00439-017-1809-4","article-title":"Deep intronic mutations and human disease","volume":"136","author":"Vaz-Drago","year":"2017","journal-title":"Hum Genet"},{"key":"10.1016\/j.ekir.2026.106553_bib14","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1038\/sj.ki.5002365","article-title":"Collagen alpha5 and alpha2(IV) chain coexpression: analysis of skin biopsies of Alport patients","volume":"72","author":"de Serre","year":"2007","journal-title":"Kidney Int"},{"key":"10.1016\/j.ekir.2026.106553_bib15","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.ekir.2026.106553_bib16","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s13353-018-0444-7","article-title":"Splicing mutations in human genetic disorders: examples, detection, and confirmation","volume":"59","author":"Anna","year":"2018","journal-title":"J Appl Genet"},{"key":"10.1016\/j.ekir.2026.106553_bib17","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-019-48990-9","article-title":"Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay","volume":"9","author":"Horinouchi","year":"2019","journal-title":"Sci Rep"},{"key":"10.1016\/j.ekir.2026.106553_bib18","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1007\/s00467-016-3565-4","article-title":"Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome","volume":"32","author":"Malone","year":"2017","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ekir.2026.106553_bib19","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.2215\/CJN.04140414","article-title":"X-linked Alport syndrome caused by splicing mutations in COL4A5","volume":"9","author":"Nozu","year":"2014","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2026.106553_bib20","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.2215\/CJN.19171220","article-title":"Genetic basis of Type IV collagen disorders of the kidney","volume":"16","author":"Quinlan","year":"2021","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2026.106553_bib21","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1053\/j.ajkd.2007.05.004","article-title":"Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples","volume":"50","author":"Tazon-Vega","year":"2007","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.ekir.2026.106553_bib22","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1053\/j.ajkd.2021.04.017","article-title":"Pathogenic variants in the genes affected in Alport syndrome (COL4A3-COL4A5) and their association with other kidney conditions: a review","volume":"78","author":"Savige","year":"2021","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.ekir.2026.106553_bib23","doi-asserted-by":"crossref","DOI":"10.1002\/humu.9453","article-title":"A two-tier approach to mutation detection in theCOL4A5 gene for Alport syndrome","volume":"27","author":"King","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ekir.2026.106553_bib24","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/humu.23364","article-title":"Urine-derived podocytes-lineage cells: a promising tool for precision medicine in Alport syndrome","volume":"39","author":"Daga","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ekir.2026.106553_bib25","article-title":"mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing","volume":"11","author":"Wang","year":"2021","journal-title":"Sci Rep"},{"key":"10.1016\/j.ekir.2026.106553_bib26","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1016\/j.ekir.2023.04.001","article-title":"Abnormal mRNA splicing effect of COL4A3 to COL4A5 unclassified variants","volume":"8","author":"Zhang","year":"2023","journal-title":"Kidney Int Rep"},{"key":"10.1016\/j.ekir.2026.106553_bib27","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.ekir.2026.106553_bib28","doi-asserted-by":"crossref","first-page":"2080","DOI":"10.1038\/nprot.2012.115","article-title":"Generation of human induced pluripotent stem cells from urine samples","volume":"7","author":"Zhou","year":"2012","journal-title":"Nat Protoc"},{"key":"10.1016\/j.ekir.2026.106553_bib29","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1093\/hmg\/3.2.317","article-title":"Aberrant splicing of the COL4A5 gene in patients with Alport syndrome","volume":"3","author":"Lemmink","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ekir.2026.106553_bib30","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1007\/s00439-002-0830-3","article-title":"Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome","volume":"111","author":"King","year":"2002","journal-title":"Hum Genet"},{"key":"10.1016\/j.ekir.2026.106553_bib31","article-title":"Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay","volume":"8","author":"Horinouchi","year":"2020","journal-title":"Mol Genet Genom Med"},{"key":"10.1016\/j.ekir.2026.106553_bib32","author":"Wallis","year":"2013"},{"key":"10.1016\/j.ekir.2026.106553_bib33","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1111\/j.0022-202X.2004.23549.x","article-title":"Basement membrane reconstruction in human skin equivalents is regulated by fibroblasts and\/or exogenously activated keratinocytes","volume":"124","author":"El Ghalbzouri","year":"2005","journal-title":"J Invest Dermatol"}],"container-title":["Kidney International Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2468024926027853?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2468024926027853?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T20:01:47Z","timestamp":1784577707000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2468024926027853"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":33,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["S2468024926027853"],"URL":"https:\/\/doi.org\/10.1016\/j.ekir.2026.106553","relation":{},"ISSN":["2468-0249"],"issn-type":[{"value":"2468-0249","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome","name":"articletitle","label":"Article Title"},{"value":"Kidney International Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ekir.2026.106553","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Author(s). Published by Elsevier Inc. on behalf of the International Society of Nephrology.","name":"copyright","label":"Copyright"}],"article-number":"106553"}}