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- Title
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
- Authors
Demos, Michelle K.; van Karnebeek, Clara D. M.; Ross, Colin J. D.; Adam, Shelin; Yaoqing Shen; Shing Hei Zhan; Shyr, Casper; Horvath, Gabriella; Mohnish Suri; Fryer, Alan; Jones, Steven J. M.; Friedman, Jan M.
- Abstract
Background We undertook genetic analysis of three affected families to identify the cause of dominantlyinherited 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.
- Subjects
EXTRAPYRAMIDAL disorders; DYSTONIA; PARKINSON'S disease; CHROMOSOMES; GENETIC mutation
- Publication
Orphanet Journal of Rare Diseases, 2014, Vol 9, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/1750-1172-9-15