2. Academic Validation
  3. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

  • Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822.
Katie Snape 1,  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 Douglas,  Nazneen Rahman
Affiliations

Affiliation

  • 1 Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK.
PMID: 21552266 DOI: 10.1038/ng.822
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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