Abstract
Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-year-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign, and thinning of corpus callosum. A novel homozygous 36-bp insertion in PIBF1 (c.1181_1182ins36) was identified by exome sequencing as the likely cause of her condition. This is the second publication demonstrating the cause and effect relationship between PIBF1 and Joubert syndrome.
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Acknowledgements
We thank the family who cooperated with evaluation of the children and consented for participation in this study.
Funding
This work was supported by National Institutes of Health funded the project titled “Genetic Diagnosis of Heritable Neurodevelopmental Disorders in India: Investigating the Use of Whole Exome Sequencing and Genetic Counseling to Address the High Burden of Neurodevelopmental Disorders”(1R21NS094047-01).
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Hebbar, M., Kanthi, A., Shukla, A. et al. A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. J Hum Genet 63, 935–939 (2018). https://doi.org/10.1038/s10038-018-0462-7
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DOI: https://doi.org/10.1038/s10038-018-0462-7
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