Himalayan Institute of Medical Sciences

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Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome
(BMJ Publishing Group, 2023-05-31) Saikat Patra; Garima Goyal; Yasir Ahmad Lone; Girish Gupta
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.