Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
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State: Public
Version: Author's accepted manuscript
License: Not specified
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
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
30/04/2021 7:11