{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T03:21:33Z","timestamp":1766546493640,"version":"3.48.0"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T00:00:00Z","timestamp":1712620800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"\n Objective:<\/jats:bold>\n The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary spherocytosis.\n <\/jats:p>\n \n Methods:<\/jats:bold>\n We utilized whole-exome sequencing (WES) for individual analysis (case 1) and family-based trio analysis (case 2). The significance of the intronic mutation was validated through a Minigene splicing assay and supported by subsequent\n in vitro<\/jats:italic>\n experiments.\n <\/jats:p>\n \n Results:<\/jats:bold>\n Both probands received a diagnosis of hereditary spherocytosis. WES identified a novel\n ANK1<\/jats:italic>\n c.1504-9G&gt;A mutation in both patients, causing the retention of seven nucleotides at the 5\u2032 end of intron 13, as substantiated by the Minigene assay. This variant results in a premature stop codon and the production of a truncated protein.\n In vitro<\/jats:italic>\n studies indicated a reduced expression of the\n ANK1<\/jats:italic>\n gene.\n <\/jats:p>\n \n Conclusion:<\/jats:bold>\n The novel\n ANK1<\/jats:italic>\n c.1504-9G&gt;A variant is established as the causative factor for hereditary spherocytosis, with the c.1504-9G site functioning as a splicing receptor.\n <\/jats:p>","DOI":"10.3389\/fgene.2024.1390924","type":"journal-article","created":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T00:27:18Z","timestamp":1712622438000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis"],"prefix":"10.3389","volume":"15","author":[{"given":"Ting","family":"Xiong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongjin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Wan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chongjun","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,4,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"784","DOI":"10.1111\/bjh.16244","article-title":"Deciphering molecular heterogeneity of indian families with hereditary spherocytosis using targeted next-generation sequencing: first south asian study","volume":"188","author":"Aggarwal","year":"2020","journal-title":"Br. 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