Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Details

Serval ID
serval:BIB_7016C1743532
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Journal
Nature Genetics
Author(s)
Snape K., Hanks S., Ruark E., Barros-Núñez P., Elliott A., Murray A., Lane A.H., Shannon N., Callier P., Chitayat D., Clayton-Smith J., Fitzpatrick D.R., Gisselsson D., Jacquemont S., Asakura-Hay K., Micale M.A., Tolmie J., Turnpenny P.D., Wright M., Douglas J., Rahman N.
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Publication state
Published
Issued date
2011
Volume
43
Number
6
Pages
527-529
Language
english
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.
Pubmed
Web of science
Create date
14/06/2011 14:03
Last modification date
20/08/2019 15:28
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