Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Katie Snape, Sandra Hanks, Elise Ruark, Patricio Barros-Núñez, Anna Elliott, Anne Murray, Andrew H. Lane, Nora Shannon, Patrick Callier, David Chitayat, Jill Clayton-Smith, David R. Fitzpatrick, David Gisselsson, Sebastien Jacquemont, Keiko Asakura-Hay, Mark A. Micale, John Tolmie, Peter D. Turnpenny, Michael Wright, Jenny DouglasNazneen Rahman

    Research output: Contribution to journalArticlepeer-review


    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. © 2011 Nature America, Inc. All rights reserved.
    Original languageEnglish
    Pages (from-to)527-529
    Number of pages2
    JournalNature Genetics
    Issue number6
    Publication statusPublished - Jun 2011


    Dive into the research topics of 'Mutations in CEP57 cause mosaic variegated aneuploidy syndrome'. Together they form a unique fingerprint.

    Cite this