{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:30:14Z","timestamp":1790890214434,"version":"4.1.0"},"reference-count":65,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,3,25]],"date-time":"2025-03-25T00:00:00Z","timestamp":1742860800000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Haploinsufficiency of the <jats:italic>PAX6<\/jats:italic> gene causes aniridia, a congenital eye disorder characterised by the absence or malformation of the iris and foveal hypoplasia. Previous studies indicate that pathogenic splice variants account for up to 15% of all disease\u2010causing <jats:italic>PAX6<\/jats:italic> variants. However, this proportion may be significantly underestimated because the pathogenicity of splice variants can only be accurately established through experimental validation. In this study, we developed and validated a system of eight minigene constructions for the functional analysis of splicing variants in the <jats:italic>PAX6<\/jats:italic> gene. This system covers all <jats:italic>PAX6<\/jats:italic> coding exons and allows the analysis of any exon and most intronic variants of <jats:italic>PAX6<\/jats:italic>. Our comprehensive approach, employing fragment analysis and deep targeted sequencing, enabled us to accurately characterise 38 previously described <jats:italic>PAX6<\/jats:italic> variants, including challenging cases with multiple splicing events. The application of our system revealed that the number of pathogenic splicing variants might be closer to 30% of all pathogenic <jats:italic>PAX6<\/jats:italic> variants. This finding considerably reshapes our understanding of their significance in the genetic landscape of aniridia.<\/jats:p>","DOI":"10.1111\/jcmm.70459","type":"journal-article","created":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T05:29:54Z","timestamp":1743139794000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Assessing Splicing Variants in the <scp><i>PAX6<\/i><\/scp> Gene: A Comprehensive Minigene Approach"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7620-9175","authenticated-orcid":false,"given":"Kseniya","family":"Davydenko","sequence":"first","affiliation":[{"name":"Department of Functional Genomics Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5979-0727","authenticated-orcid":false,"given":"Alexandra","family":"Filatova","sequence":"additional","affiliation":[{"name":"Department of Functional Genomics Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7293-3438","authenticated-orcid":false,"given":"Mikhail","family":"Skoblov","sequence":"additional","affiliation":[{"name":"Department of Functional Genomics Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,25]]},"reference":[{"issue":"11","key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/bies.10174","article-title":"Pax6; a Pleiotropic Player in Development","volume":"24","author":"Simpson T. 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