{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T12:56:13Z","timestamp":1781700973700,"version":"3.54.5"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T00:00:00Z","timestamp":1705536000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T00:00:00Z","timestamp":1705536000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"The present study was funded by the Talent Research Starting Foundation, Hubei University of Medicine","award":["2016QDJZR09"],"award-info":[{"award-number":["2016QDJZR09"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the <jats:italic>MAGED2<\/jats:italic> gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most reported mutations are located in the exon region, variations in the intron region are rarely reported.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>In our study, we employed whole exome sequencing and Sanger sequencing to genotype members of this family. Additionally, a minigene assay was conducted to evaluate the impact of genetic variants on splicing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Our findings reveal a novel intronic variant (NM_177433.3:c.1271\u2009+\u20094_1271\u2009+\u20097delAGTA) in intron 10 of the <jats:italic>MAGED2<\/jats:italic> gene. Further analysis using the minigene assay demonstrated that this variant activated an intronic cryptic splice site, resulting in a 96\u00a0bp insertion in mature mRNA.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our results indicate that the novel intronic variant (c.1271\u2009+\u20094_1271\u2009+\u20097delAGTA) in intron 10 of the <jats:italic>MAGED2<\/jats:italic> gene is pathogenic. This expands the mutation spectrum of <jats:italic>MAGED2<\/jats:italic> and highlights the significance of intronic sequence analysis.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-024-01797-8","type":"journal-article","created":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T11:40:30Z","timestamp":1705578030000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome"],"prefix":"10.1186","volume":"17","author":[{"given":"Xu","family":"Yan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yueyue","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiying","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liu","family":"Ouyang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changjun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,1,18]]},"reference":[{"issue":"19","key":"1797_CR1","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.1056\/NEJMoa1507629","volume":"374","author":"K Laghmani","year":"2016","unstructured":"Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, et al. 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