{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T18:16:16Z","timestamp":1783016176234,"version":"3.54.6"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T00:00:00Z","timestamp":1775606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T00:00:00Z","timestamp":1775606400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109760"],"award-info":[{"award-number":["JP23ek0109760"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>FUZ<\/jats:italic>\n                    , a component of the CPLANE (ciliogenesis and planar polarity effector) complex, regulates primary ciliogenesis. Five patients of various types of skeletal dysplasia with biallelic\n                    <jats:italic>FUZ<\/jats:italic>\n                    variants have been reported to date, yet the gene\u2010disease relationship has not been established. Here, we report a patient with ciliopathy with a novel homozygous missense variant in\n                    <jats:italic>FUZ<\/jats:italic>\n                    . This patient shares phenotypes with all the previously reported patients and presents with novel phenotypes: aorto\u2010pulmonary window (AP window) and Hirschsprung disease. These phenotypes can be explained by the inhibition of neural crest cell migration due to abnormal Sonic hedgehog (Shh) signaling caused by primary cilia dysfunction. In silico three\u2010dimensional structural analysis predicted that the variant alters interactions between\n                    <jats:italic>FUZ<\/jats:italic>\n                    and\n                    <jats:italic>CPLANE2<\/jats:italic>\n                    (\n                    <jats:italic>RSG1<\/jats:italic>\n                    ), potentially disrupting ciliogenesis. This report provides additional evidence for\n                    <jats:italic>FUZ<\/jats:italic>\n                    as a causative gene for ciliopathy, offering novel insights into the phenotype spectrum and molecular mechanisms of\n                    <jats:italic>FUZ<\/jats:italic>\n                    \u2010related ciliopathy.\n                  <\/jats:p>","DOI":"10.1111\/cge.70170","type":"journal-article","created":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T06:20:02Z","timestamp":1775715602000},"page":"236-241","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Phenotypic Expansion and Molecular Implications in Recessive\n                    <scp>\n                      <i>FUZ<\/i>\n                    <\/scp>\n                    \u2010Related Ciliopathy"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5049-5764","authenticated-orcid":false,"given":"Yosuke","family":"Ogawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"},{"name":"Department of Pediatrics, Graduate Department of Pediatrics, Graduate Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Tokyo Japan"},{"name":"Department of Genome Informatics, Graduate Department of Genome Informatics, Graduate Department of Genome Informatics, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3656-2665","authenticated-orcid":false,"given":"Shota","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"},{"name":"Department of Pediatrics, Graduate Department of Pediatrics, Graduate Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Shiraga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5145-1774","authenticated-orcid":false,"given":"Motohiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"},{"name":"Department of Pediatrics, Graduate Department of Pediatrics, Graduate Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7501-689X","authenticated-orcid":false,"given":"Ryo","family":"Inuzuka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,8]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1966"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3558"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.abn0832"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010024\u201001619\u20106"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010021\u201000988\u20106"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23362"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201604048"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010025\u201061005\u20108"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010024\u201007487\u2010w"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr359"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2013.05.021"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0024608"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.702"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2020.04.017"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.09.013"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02824"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0707057105"}],"container-title":["Clinical 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