{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T02:16:33Z","timestamp":1788315393342,"version":"build-2803163510"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100010882","name":"Tianjin Municipal Education Commission","doi-asserted-by":"publisher","award":["2024ZXZD003"],"award-info":[{"award-number":["2024ZXZD003"]}],"id":[{"id":"10.13039\/501100010882","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Neurodevelopmental disorders (NDDs) are a group of developmental brain disorders caused by various genetic or acquired factors. OMIM has only recently associated the KCNK3 gene with developmental delay associated with sleep apnea (DDSA). Most prior studies on the\n                    <jats:italic>KCNK3<\/jats:italic>\n                    gene have focused on PAH and cardiovascular diseases. In a 2\u2010year\u2010old girl presenting with generalized hypotonia and delayed language development, we identified a de novo missense variant in\n                    <jats:italic>KCNK3<\/jats:italic>\n                    through the reanalysis of trio\u2010whole exome sequencing (trio\u2010WES) data. To further explore the relationship between\n                    <jats:italic>KCNK3<\/jats:italic>\n                    and neurodevelopmental phenotypes, we conducted bidirectional expression regulation of the homologous gene\n                    <jats:italic>Task7<\/jats:italic>\n                    based on the\n                    <jats:italic>Drosophila<\/jats:italic>\n                    model. Both overexpression and knockdown of the\n                    <jats:italic>Task7<\/jats:italic>\n                    gene induced anxiety\u2010like behaviors and impaired learning and memory. Notably,\n                    <jats:italic>Task7<\/jats:italic>\n                    overexpression also led to reduced climbing ability and abnormal sleep patterns; collectively, these four phenotypes recapitulate the characteristic hallmarks of human neurodevelopmental disorders. This study represents the first application of a\n                    <jats:italic>Drosophila<\/jats:italic>\n                    model to demonstrate that\n                    <jats:italic>KCNK3<\/jats:italic>\n                    functions as a dosage\u2010sensitive regulator of neurodevelopment. While the underlying mechanisms remain to be fully elucidated, these findings position\n                    <jats:italic>KCNK3<\/jats:italic>\n                    as a candidate gene for molecular screening and pave the way for future functional studies and therapeutic exploration in NDDs.\n                  <\/jats:p>","DOI":"10.1111\/cge.70216","type":"journal-article","created":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T14:22:31Z","timestamp":1784902951000},"page":"460-470","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Phenotypic and Functional Evidence for\n                    <scp>\n                      <i>KCNK3<\/i>\n                    <\/scp>\n                    as a Neurodevelopmental Disorder Gene: A New Chinese Case and\n                    <i>Drosophila<\/i>\n                    Validation"],"prefix":"10.1111","volume":"110","author":[{"given":"Yuanyuan","family":"Sun","sequence":"first","affiliation":[{"name":"Clinical School of Pediatrics Tianjin Medical University  Tianjin China"},{"name":"Children's Hospital, Tianjin University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyi","family":"Wang","sequence":"additional","affiliation":[{"name":"Clinical School of Pediatrics Tianjin Medical University  Tianjin China"},{"name":"Children's Hospital, Tianjin University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liwei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Clinical School of Pediatrics Tianjin Medical University  Tianjin China"},{"name":"Children's Hospital, Tianjin University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyu","family":"Gu","sequence":"additional","affiliation":[{"name":"Children's Hospital, Tianjin University  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