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Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome
  1. Saikat Patra1,
  2. Garima Goyal1,
  3. Yasir Ahmad Lone2 and
  4. Girish Gupta1
  1. 1Neonatology, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India
  2. 2Paediatric Surgery, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India
  1. Correspondence to Dr Girish Gupta; dscnnf{at}


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%–10% 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>A (p.Ser1684Ter) in exon 26, which was inherited from the parents.

  • Genetics
  • Genetic screening / counselling
  • Neonatal intensive care
  • Neuroimaging
  • Congenital disorders

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  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content—SP, GaG, YAL and GG. The following authors gave final approval of the manuscript—SP, GaG, YAL and GG.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.