Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822. Epub 2011 May 8.

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Author information

1
Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK.

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.

PMID:
21552266
PMCID:
PMC3508359
DOI:
10.1038/ng.822
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group Icon for PubMed Central
    Loading ...
    Support Center