{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T19:29:20Z","timestamp":1787081360127,"version":"build-2736575974"},"reference-count":35,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T00:00:00Z","timestamp":1759104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T00:00:00Z","timestamp":1759104000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cytoskeleton"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Joubert syndrome (JBTS) is a group of recessive neurodevelopmental disorders classified as a specific type of ciliopathy with genetic heterogeneity. JBTS23, a subtype of Joubert syndrome, is caused by variations in the\n                    <jats:italic>KIAA0586<\/jats:italic>\n                    gene. In this study, we report a 9\u2010month\u2010old boy diagnosed with JBTS based on the presence of the molar tooth sign in the midbrain and global developmental delay. Whole\u2010exome sequencing identified two pathogenic variants in\n                    <jats:italic>KIAA0586<\/jats:italic>\n                    (c.3944\u2009T&gt;G and c.3686\u2009+\u20093A&gt;G), consistent with an autosomal recessive inheritance pattern. These findings were confirmed through Sanger sequencing of the proband and his parents. This study identifies two novel pathogenic variants in\n                    <jats:italic>KIAA0586<\/jats:italic>\n                    , provides a genetic diagnosis for this patient as JBTS23, and expands the variant spectrum of\n                    <jats:italic>KIAA0586<\/jats:italic>\n                    associated with JBTS.\n                  <\/jats:p>","DOI":"10.1002\/cm.70047","type":"journal-article","created":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T11:50:54Z","timestamp":1759146654000},"page":"626-632","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Pathogenic Biallelic Variants in\n                    <scp>\n                      <i>KIAA0586<\/i>\n                    <\/scp>\n                    Expand the Variant Spectrum of Ciliopathies"],"prefix":"10.1002","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2797-9178","authenticated-orcid":false,"given":"Yue","family":"Shen","sequence":"first","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruida","family":"He","sequence":"additional","affiliation":[{"name":"Institute for Translational Medicine on Cell Fate and Disease, Shanghai Ninth People's Hospital, Key Laboratory of Cell Differentiation and Apoptosis of National Ministry of Education Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Lu","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning  Beijing 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