{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T14:09:46Z","timestamp":1780495786351,"version":"3.54.1"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,10,18]],"date-time":"2019-10-18T00:00:00Z","timestamp":1571356800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81400937"],"award-info":[{"award-number":["81400937"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid\u2010hindbrain malformation called the \u201cmolar tooth sign\u201d on axial magnetic resonance imaging. To date, more than 35 ciliary genes have been identified as the causative genes of JS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole exome sequencing was performed to detect the causative gene mutations in a Chinese patient with JS followed by Sanger sequencing. RT\u2010PCR and Sanger sequencing were used to confirm the abnormal transcript of centrosomal protein 104 (<jats:italic>CEP104<\/jats:italic>, OMIM: 616690).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified two novel heterozygous mutations of <jats:italic>CEP104<\/jats:italic> in the proband, which were c.2364+1G&gt;A and c.414delC (p.Asn138Lysfs*11) (GenBank: <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"NM_014704.3\">NM_014704.3<\/jats:ext-link>) and consistent with the autosomal recessive inheritance mode.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study reported the fourth case of JS patients with <jats:italic>CEP104<\/jats:italic> mutations, which expands the mutation spectrum of <jats:italic>CEP104<\/jats:italic> and elucidates the clinical heterogeneity of JS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1004","type":"journal-article","created":{"date-parts":[[2019,10,18]],"date-time":"2019-10-18T11:43:15Z","timestamp":1571398995000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Whole exome sequencing reveals novel <i>CEP104<\/i> mutations in a Chinese patient with Joubert syndrome"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1855-985X","authenticated-orcid":false,"given":"Minna","family":"Luo","sequence":"first","affiliation":[{"name":"National Research Institute for Family Planning Beijing China"},{"name":"National Human Genetic Resources Center Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Cao","sequence":"additional","affiliation":[{"name":"Child Healthcare Department (Child Early Development Center) Sichuan Provincial Hospital for Women and Children Chengdu 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