Abstract
We report on a sib pair of Indian origin born of a consanguineous parentage with a novel phenotype of distinct facial dysmorphism, cerebellar ataxia, dystonia, and exudative retinopathy due to homozygous PCDH12 nonsense variations. cDNA studies showed >90% reduction in transcript levels in both patients, indicating nonsense-mediated decay and loss of function as the probable causative molecular mechanism of the phenotype.
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Acknowledgements
Authors are thankful to the family for participation in the study. Science and Engineering Research Board (SERB), Government of India is also acknowledged for providing research grant to ADB under the category of young scientist scheme (SERB file no. YSS/2015/001681).
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Vineeth, V.S., Das Bhowmik, A., Balakrishnan, S. et al. Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. J Hum Genet 64, 183–189 (2019). https://doi.org/10.1038/s10038-018-0541-9
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DOI: https://doi.org/10.1038/s10038-018-0541-9
