1. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
- Author
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Snape, Katie, Hanks, Sandra, Ruark, Elise, Barros-Núñez, Patricio, Elliott, Anna, Murray, Anne, Lane, Andrew H., Shannon, Nora, Callier, Patrick, Chitayat, David, Clayton-Smith, Jill, FitzPatrick, David R, Gisselsson, David, Jacquemont, Sebastien, Asakura-Hay, Keiko, Micale, Mark A., Tolmie, John, Turnpenny, Peter D., Wright, Michael, and Douglas, Jenny
- Subjects
GENETIC mutation ,ANEUPLOIDY ,CENTROSOMES ,MICROTUBULES ,CELL division - Abstract
Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division. [ABSTRACT FROM AUTHOR]
- Published
- 2011
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