{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T17:39:01Z","timestamp":1786469941137,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82260299"],"award-info":[{"award-number":["82260299"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aims to screen for genetic variants associated with premature ovarian insufficiency (POI) in a Chinese Miao pedigree.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The proband underwent whole exome sequencing (WES), and the extracted data were subjected to bioinformatics analysis using the Rare Disease Data Center (RDDC) splicing tool to identify potential genetic causes in the lineage. Sanger sequencing was employed to confirm the variants in the family, and minigene assays were used to analyze how the\n                      <jats:italic>FIGLA<\/jats:italic>\n                      variant affects pre\u2010mRNA splicing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A novel heterozygous intronic and POI\u2010associated variant in the\n                      <jats:italic>FIGLA<\/jats:italic>\n                      gene (c.385\u20109G&gt;A) was identified. Splice prediction analysis showed that this variant may disrupt splicing patterns. This result was supported by the outcome of minigene assays, which revealed that the variant led to aberrant splicing of\n                      <jats:italic>FIGLA<\/jats:italic>\n                      introns. As a result, retention of a 7\u2010bp intronic sequence from intron 2 was found in the mature mRNA.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>FIGLA<\/jats:italic>\n                      variant (c.385\u20109G&gt;A) disrupts mRNA splicing in cells and may contribute to POI in this pedigree. Therefore, our results expand the variant spectrum of the\n                      <jats:italic>FIGLA<\/jats:italic>\n                      gene, provide valuable insights into the pathogenesis of POI for genetic counseling, and may assist clinicians in the early diagnosis of women with infertility.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ahg.70043","type":"journal-article","created":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T11:06:45Z","timestamp":1782299205000},"page":"269-277","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>FIGLA<\/i>\n                    Novel Variant c.385\u20109G&gt;A Affects RNA Splicing in a Minigene Assay"],"prefix":"10.1111","volume":"90","author":[{"given":"Ying","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory Medicine Zhejiang Provincial People's Hospital Bijie Hospital (The First People's Hospital of Bijie)  Bijie Guizhou China"},{"name":"Department of Clinical Laboratory Guizhou Provincial People's Hospital  Guiyang Guizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Hu","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center Guizhou Provincial People's Hospital  Guiyang Guizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingyan","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Guizhou Provincial People's Hospital  Guiyang Guizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fangfang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Guizhou Provincial People's Hospital  Guiyang Guizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center Guizhou Provincial People's Hospital  Guiyang Guizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Liu","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center Guizhou Provincial People's Hospital  Guiyang Guizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guiqin","family":"You","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Guizhou Provincial People's Hospital  Guiyang Guizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yurong","family":"Feng","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center Guizhou Provincial People's Hospital  Guiyang Guizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengwen","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Guizhou Provincial People's Hospital  Guiyang Guizhou 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