A novel recurrent mutation in ATP1A3 causes CAPOS syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-12

AUTHORS

Michelle K Demos, Clara DM van Karnebeek, Colin JD Ross, Shelin Adam, Yaoqing Shen, Shing Hei Zhan, Casper Shyr, Gabriella Horvath, Mohnish Suri, Alan Fryer, Steven JM Jones, Jan M Friedman, the FORGE Canada Consortium

ABSTRACT

BACKGROUND: We undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) syndrome. METHODS: We used whole-exome sequencing to analyze two families affected with CAPOS syndrome, including the original family reported in 1996, and Sanger sequencing to assess familial segregation of rare variants identified in the probands and in a third, apparently unrelated family with CAPOS syndrome. RESULTS: We found an identical heterozygous missense mutation, c.2452G > A (p.(Glu818Lys)), in the Na⁺/K⁺ ATPase α₃(ATP1A3) gene in the proband and his affected sister and mother, but not in either unaffected maternal grandparent, in the first family. The same mutation was also identified in the proband and three other affected members of the second family and in all three affected members of the third family. This mutation was not found in more than 3600 chromosomes from unaffected individuals. CONCLUSION: Other mutations in ATP1A3 have previously been demonstrated to cause rapid-onset dystonia-parkinsonism (also called dystonia-12) or alternating hemiplegia of childhood. This study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome. More... »

PAGES

15

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1750-1172-9-15

DOI

http://dx.doi.org/10.1186/1750-1172-9-15

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011088779

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24468074


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RDF/XML is a standard XML format for linked data.

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