{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:24:05Z","timestamp":1792416245680,"version":"4.4.0"},"reference-count":16,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2014,5,21]],"date-time":"2014-05-21T00:00:00Z","timestamp":1400630400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:p>Joubert syndrome is a neurologic disorder with a pathognomonic \u201cmolar tooth sign\u201d on brain imaging. The purpose of this study was to identify potential mutations in a Chinese patient with Joubert syndrome by targeted massively parallel sequencing. Taking advantage of high-throughput DNA sequencing technologies, 18 Joubert-causing genes of a Chinese patient with classic Joubert syndrome were sequenced at a time, and 2 novel variants in the CEP290 gene (c.7323_7327delAGAAG and c.6012-2A&gt;G) were identified in this patient. Sanger validation showed that 2 variants were inherited from each parents, respectively. Both variants are located in the C-terminal region of the CEP290 protein and are predicted to be deleterious. The results support that the combination of targeted genes enrichment and next-generation sequencing is valuable molecular diagnostic tool and suitable for clinical application.<\/jats:p>","DOI":"10.1177\/0883073814535488","type":"journal-article","created":{"date-parts":[[2014,5,21]],"date-time":"2014-05-21T23:28:30Z","timestamp":1400714910000},"page":"772-776","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 (\n                    <i>CEP290<\/i>\n                    ) Result in Classic Joubert Syndrome"],"prefix":"10.1177","volume":"30","author":[{"given":"Lixia","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 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