{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T03:11:02Z","timestamp":1783998662571,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T00:00:00Z","timestamp":1620864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2021,7]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Both Pierson syndrome (PS) and isolated nephrotic syndrome can be caused by LAMB2<\/jats:italic> biallelic pathogenic variants. Only 15 causative splicing variants in the LAMB2<\/jats:italic> gene have been reported. However, the pathogenicity of most of these variants has not been verified, which may lead to incorrect interpretation of the functional consequence of these variants.<\/jats:p><\/jats:sec>Methods<\/jats:title>Using high\u2010throughput DNA sequencing and Sanger sequencing, we detected variants in a female with clinically suspected PS. A minigene splicing assay was performed to assess the effect of LAMB2<\/jats:italic> intron 20 c.2885\u20109C>A on RNA splicing. We also performed the immunohistochemical analysis of laminin beta\u20102 in kidney tissues.<\/jats:p><\/jats:sec>Results<\/jats:title>Two novel LAMB2<\/jats:italic> heteroallelic variants were found: a paternally inherited variant c.2885\u20109C>A in intron 20 and a maternally inherited variant c. 3658C>T (p. (Gln1220Ter)). In vitro minigene assay showed that the variant c.2885\u20109C>A caused erroneous integration of a 7\u00a0bp sequence into intron 20. Immunohistochemical analysis revealed the absence of glomerular expression of laminin beta\u20102, the protein encoded by LAMB2<\/jats:italic>.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>We demonstrated the impact of a novel LAMB2<\/jats:italic> intronic variant on RNA splicing using the minigene assay firstly. Our results extend the mutational spectrum of LAMB2<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1704","type":"journal-article","created":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T09:04:43Z","timestamp":1620896683000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["LAMB2<\/i> novel variant c.2885\u20109 C>A affects RNA splicing in a minigene assay"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4634-7072","authenticated-orcid":false,"given":"Xiaoyuan","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijie","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing 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