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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
- Source :
- Nature Genetics; Jun2011, Vol. 43 Issue 6, p527-529, 3p, 1 Diagram, 1 Chart
- Publication Year :
- 2011
-
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]
- Subjects :
- GENETIC mutation
ANEUPLOIDY
CENTROSOMES
MICROTUBULES
CELL division
Subjects
Details
- Language :
- English
- ISSN :
- 10614036
- Volume :
- 43
- Issue :
- 6
- Database :
- Complementary Index
- Journal :
- Nature Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 60832334
- Full Text :
- https://doi.org/10.1038/ng.822