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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Snape, Katie ; Hanks, Sandra ; Ruark, Elise ; Barros-Nunez, Patricio ; Elliott, Anna ; Murray, Anne ; Lane, Andrew H. ; Shannon, Nora ; Callier, Patrick and Chitayat, David , et al. (2011) In Nature Genetics 43(6). p.527-529
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.
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Genetics
volume
43
issue
6
pages
527 - 529
publisher
Nature Publishing Group
external identifiers
  • wos:000291017000008
  • scopus:79957612407
  • pmid:21552266
ISSN
1546-1718
DOI
10.1038/ng.822
language
English
LU publication?
yes
id
b1768494-b728-4b98-a5d9-61962594b3cb (old id 1985853)
date added to LUP
2016-04-01 14:08:15
date last changed
2021-10-03 04:55:42
@article{b1768494-b728-4b98-a5d9-61962594b3cb,
  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.},
  author       = {Snape, Katie and Hanks, Sandra and Ruark, Elise and Barros-Nunez, Patricio and Elliott, Anna and Murray, Anne and Lane, Andrew H. and Shannon, Nora and Callier, Patrick and Chitayat, David and Clayton-Smith, Jill and FitzPatrick, David R. and Gisselsson Nord, David and Jacquemont, Sebastien and Asakura-Hay, Keiko and Micale, Mark A. and Tolmie, John and Turnpenny, Peter D. and Wright, Michael and Douglas, Jenny and Rahman, Nazneen},
  issn         = {1546-1718},
  language     = {eng},
  number       = {6},
  pages        = {527--529},
  publisher    = {Nature Publishing Group},
  series       = {Nature Genetics},
  title        = {Mutations in CEP57 cause mosaic variegated aneuploidy syndrome},
  url          = {http://dx.doi.org/10.1038/ng.822},
  doi          = {10.1038/ng.822},
  volume       = {43},
  year         = {2011},
}