{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T19:30:08Z","timestamp":1770838208061,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T00:00:00Z","timestamp":1765411200000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002767","name":"Department of Science and Technology of Hunan Province","doi-asserted-by":"publisher","award":["2019SK1012"],"award-info":[{"award-number":["2019SK1012"]}],"id":[{"id":"10.13039\/501100002767","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The calcium voltage\u2010gated channel subunit alpha1 F (CACNA1F) gene\u2010related retinal disorders have overlapping clinical symptoms and no definitive genotype\u2013phenotype correlation, posing a challenge for diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A comprehensive ocular examination was offered to a 6\u2010year\u2010old boy and his elder brother from a Chinese family. Exome sequencing and Sanger sequencing were applied to the family quads. A minigene assay was used to detect the aberrant splicing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The 6\u2010year\u2010old boy presented with low visual acuity, congenital nystagmus, and reduced photopic and scotopic responses in electroretinography, suggesting a clinical diagnosis of cone\u2010rod dystrophy type 3 (CORDX3). By contrast, his elder brother merely had high myopia. A hemizygous splice\u2010site variant\n                      <jats:italic>CACNA1F<\/jats:italic>\n                      NM_005183.4:c.4422\u20101G&gt;T, inherited from their heterozygous carrier mother, was identified in the two brothers. Minigene assay showed that the variant resulted in intron 37 retaining or exon 38 skipping, leading to frameshift translation and early termination. This variant was absent from the public population databases and classified as pathogenic according to the ACMG guidelines.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      A novel splice\u2010site variant in\n                      <jats:italic>CACNA1F<\/jats:italic>\n                      with familial expression variability was identified. This study increases our understanding of the genotypic and phenotypic spectrum of\n                      <jats:italic>CACNA1F<\/jats:italic>\n                      \u2010related disorders.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70162","type":"journal-article","created":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T03:44:57Z","timestamp":1765511097000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a Novel Splice\u2010Site Variant in\n                    <scp>\n                      <i>CACNA1F<\/i>\n                    <\/scp>\n                    With Variable Phenotypic Expression in a Chinese Family"],"prefix":"10.1002","volume":"13","author":[{"given":"Mojiang","family":"Li","sequence":"first","affiliation":[{"name":"Optometry Center, Liuyang Jili Hospital (Liuyang Eye Hospital)  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Liuyang Hospital for Maternal and Child Health Care  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingshu","family":"Li","sequence":"additional","affiliation":[{"name":"Optometry Center, Liuyang Jili Hospital (Liuyang Eye Hospital)  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Wen","sequence":"additional","affiliation":[{"name":"Optometry Center, Liuyang Jili Hospital (Liuyang Eye Hospital)  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Zhou","sequence":"additional","affiliation":[{"name":"National Health Commission Key Laboratory of Birth Defects for Research and Prevention Hunan Provincial Maternal and Child Health Care Hospital  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0020-8277","authenticated-orcid":false,"given":"Wanqin","family":"Xie","sequence":"additional","affiliation":[{"name":"National Health Commission Key Laboratory of Birth Defects for Research and Prevention Hunan Provincial Maternal and Child Health Care Hospital  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/947"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100461"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2060"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.731737"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.06\u20101103"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.040741"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424\u2010021\u201002570\u2010x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.70117"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.4161\/chan.26376"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.62184"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12020171"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi336"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4846\u201003.2004"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2022.109143"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.82577"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010023\u201001753\u2010y"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/940"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn511434\u201020231221\u201000497"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.201812140"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25052928"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0063853"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23735"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2014.09.001"}],"container-title":["Molecular Genetics &amp; 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