{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T17:10:02Z","timestamp":1756314602490,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,5,18]]},"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:p>Joubert syndrome (JS) is a rare ciliopathy that presents with the triad of hypotonia, developmental delay and molar tooth sign (MTS) in brain MRI. Next-generation sequencing has identified about 35 genes which are known to cause JS of which CPLANE 1 mutation is found in 8%\u201310% of cases. We report a case of JS in an Indian neonate who presented with hypotonia, dysmorphic facies, polydactyly, syndactyly and occipital encephalocele. MRI of the brain revealed MTS, and compound heterozygous mutations in CPLANE 1 gene were detected by clinical exome sequencing, one of them a novel variant CPLANE 1: c.5051C&gt;A (p.Ser1684Ter) in exon 26, which was inherited from the parents.<\/jats:p>","DOI":"10.1136\/bcr-2023-255561","type":"journal-article","created":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T11:20:36Z","timestamp":1685532036000},"page":"e255561","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Novel variant CPLANE 1: c.5051C&gt;A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9413-4696","authenticated-orcid":false,"given":"Saikat","family":"Patra","sequence":"first","affiliation":[{"name":"Neonatology, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, 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