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To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype\u2013phenotype associations, we conducted a series of clinical examinations, including blood tests, brain MRI scans, ultrasound imaging, and ophthalmologic examination. Genomic DNA was extracted from the peripheral blood of the six\u2010person family, and the pathogenic variants were detected by whole\u2010exome sequencing (WES) and verified by Sanger sequencing. WES revealed two novel compound heterozygous variants in <jats:italic>CPLANE1<\/jats:italic>: c.1270C&gt;T (p.Arg424*) in exon 10 and c.8901C&gt;A (p.Tyr2967*) in exon 48 of one child, inherited from each parent. Both variants were absent in ethnically matched Chinese control individuals and were either absent or present at very low frequencies in public databases, suggesting that these variants could be the pathogenic triggers of the JS phenotype. Notably, these <jats:italic>CPLANE1<\/jats:italic> sequence variants were related to the pathogenesis of autosomal recessive JS in this study. The newly discovered variants expand the mutation spectrum of <jats:italic>CPLANE1<\/jats:italic>, which assists in understanding the molecular mechanism underlying JS and improving the recognition of genetic counseling, particularly for families with a history of autosomal recessive JS.<\/jats:p>","DOI":"10.1002\/jdn.10135","type":"journal-article","created":{"date-parts":[[2021,6,6]],"date-time":"2021-06-06T06:39:30Z","timestamp":1622961570000},"page":"529-538","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Novel compound heterozygous <i>CPLANE1<\/i> variants identified in a Chinese family with Joubert syndrome"],"prefix":"10.1002","volume":"81","author":[{"given":"Cheng","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neurology The Eleventh Clinical Medical College of Qingdao University, Linyi People\u2019s Hospital  Linyi China"},{"name":"Medical Genetic Department The Affiliated Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenchao","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology The Eleventh Clinical Medical College of Qingdao University, Linyi People\u2019s Hospital  Linyi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lulu","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Geriatric Medicine The Affiliated Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengyuan","family":"Che","sequence":"additional","affiliation":[{"name":"Department of Neurology The Eleventh Clinical Medical College of Qingdao University, Linyi People\u2019s Hospital  Linyi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiguo","family":"Liu","sequence":"additional","affiliation":[{"name":"Medical Genetic Department The Affiliated Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,25]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0019-9"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103087"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1506"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37092"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.03.012"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-20"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2017.02.065"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pmic.200600971"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25491"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.84"},{"key":"e_1_2_13_12_1","article-title":"The birth prevalence of Joubert syndrome: A population based study in the Netherlands","volume":"15","author":"Kroes H. Y.","year":"2007","journal-title":"European Journal of Human Genetics"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.10.001"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/jdn.10029"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1385-1"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.5114\/ninp.2012.30457"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.3233\/TRD-190041"},{"key":"e_1_2_13_20_1","unstructured":"Parisi M. &Glass I.(2003). Joubert syndrome. In M. P. Adam (Eds.) et al ). Joubert syndrome. In M. P. Adam (Eds.)GeneReviews\u00ae. University of Washington."},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1508-3"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.011"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3558"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.305"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.204"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2015.45"},{"key":"e_1_2_13_29_1","doi-asserted-by":"crossref","first-page":"7202168","DOI":"10.1155\/2018\/7202168","article-title":"Prenatal diagnosis and genetic analysis of a fetus with Joubert syndrome","volume":"2018","author":"Xiang J.","year":"2018","journal-title":"BioMed Research International"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10135","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jdn.10135","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10135","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10135","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T19:58:32Z","timestamp":1693339112000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.10135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,25]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1002\/jdn.10135"],"URL":"https:\/\/doi.org\/10.1002\/jdn.10135","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,25]]},"assertion":[{"value":"2021-04-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}