Abstract
Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis1. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found2. We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a truncated protein in both alleles of patients and in single alleles of obligate carriers.
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Acknowledgements
We thank the families for their participation; S. Fujita and M. Katsuki for discussions. This work was supported in part by a Grant-in-Aid for Cooperative Research from the Ministry of Education, Culture, Sports, Science and Technology, Japan.
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Ueno, Si., Maruki, Y., Nakamura, M. et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 28, 121–122 (2001). https://doi.org/10.1038/88825
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DOI: https://doi.org/10.1038/88825
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