{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T18:52:50Z","timestamp":1763578370583,"version":"3.45.0"},"reference-count":36,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100018628","name":"Scientific Research Foundation of Education Department of Anhui Province of China","doi-asserted-by":"publisher","award":["No.2022XKJ189"],"award-info":[{"award-number":["No.2022XKJ189"]}],"id":[{"id":"10.13039\/501100018628","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Anhui Provincial Scientific Research Program","award":["No. 2022AH050792"],"award-info":[{"award-number":["No. 2022AH050792"]}]},{"name":"Colleges and Universities Provincial Quality Engineering Project of Anhui Provincial Department","award":["No.2021jyxm0711"],"award-info":[{"award-number":["No.2021jyxm0711"]}]},{"name":"Educational Quality Engineering Project of Anhui Provincial Department","award":["No.2023zyxwjxalk052"],"award-info":[{"award-number":["No.2023zyxwjxalk052"]}]},{"name":"Clinical Cultivation Program of the Second Affiliated Hospital of Anhui Medical University","award":["No.2020LCZD09"],"award-info":[{"award-number":["No.2020LCZD09"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:sec id=\"sec001\">\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>Axial elongation is a key factor in myopia progression, yet its genetic basis remains incompletely understood. This study aims to identify pathogenic genetic variants associated with excessively elongated axial length in children.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study included 56 children with axial lengths exceeding the normal range for their age group, and whole-exome sequencing (WES) was performed on their oral mucosal samples. Clinical evaluations included axial length measurement, refraction testing, and fundus photography to assess the degree of myopia and retinal changes. Co-segregation analysis was conducted in selected families (F#1, F#2, F#5) to validate the familial inheritance patterns of the variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Fifteen children carried variants in genes including BBS2, OPN1LW, P4HA2, FBN1, LOXL3, FZD4, USH2A, COL2A1, and BFSP2, with five novel variants identified: BBS2 (c.700C\u2009&gt;\u2009T), P4HA2 (c.1382C\u2009&gt;\u2009G), FBN1 (c.7130T\u2009&gt;\u2009C), LOXL3 (c.1580delC), and FZD4 (c.1315G\u2009&gt;\u2009A). Notably, a rare compound heterozygous BBS2 variant (c.700C\u2009&gt;\u2009T\/c.534\u2009+\u20091G\u2009&gt;\u2009T) was found in a non-syndromic child, and the P4HA2 (c.419A\u2009&gt;\u2009G) variant in family F#5 exhibited a phenotype distinct from previous studies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study identified five novel variants sites and discovered two cases with phenotypes distinct from previous studies, thereby expanding the genetic variant spectrum associated with myopia and providing new targets for genetic screening and intervention.<\/jats:p>\n                  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