Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-02

AUTHORS

Venugopal S. Vineeth, Aneek Das Bhowmik, Surya Balakrishnan, Ashwin Dalal, Shagun Aggarwal

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. More... »

PAGES

183-189

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-018-0541-9

DOI

http://dx.doi.org/10.1038/s10038-018-0541-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1110027339

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30459466


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