{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T18:55:55Z","timestamp":1787684155143,"version":"build-2784847793"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T00:00:00Z","timestamp":1671667200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873687"],"award-info":[{"award-number":["81873687"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>ARL2BP<\/jats:italic> is a ciliary gene associated with multiple ciliopathy phenotypes. On comprehensive clinical examinations using molecular methods, we identified a Chinese patient from a consanguineous family carrying a novel homozygous variant c.22_23delAG (p.S8Lfs*10) in <jats:italic>ARL2BP<\/jats:italic>, presenting with retinitis pigmentosa (RP), situs inversus totalis, and oligozoospermia. Situs inversus and male infertility have never been reported in the same patient with <jats:italic>ARL2BP<\/jats:italic> variants; therefore, this a novel <jats:italic>ARL2BP<\/jats:italic>\u2010associated phenotypic triad of RP, situs inversus, and male infertility. Moreover, this patient likely had olfactory dysfunction susceptibility and presented with anosmia. We found reduced patient\u2010derived fibroblast proliferation and ciliary length. Our findings expand the genotypic spectrum and reveal abnormal cell proliferation and ciliogenesis in <jats:italic>ARL2BP<\/jats:italic>\u2010associated patients.<\/jats:p>","DOI":"10.1111\/cge.14278","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T15:21:07Z","timestamp":1670858467000},"page":"472-477","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel homozygous variant in <scp><i>ARL2BP<\/i><\/scp> associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient"],"prefix":"10.1111","volume":"103","author":[{"given":"Tian","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing 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Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zixi","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6659-0926","authenticated-orcid":false,"given":"Ruifang","family":"Sui","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing 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