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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

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.

SUBMITTER: Snape K

PROVIDER: S-EPMC3508359 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Snape Katie K Hanks Sandra S Ruark Elise E Barros-Núñez Patricio P Elliott Anna A Murray Anne A Lane Andrew H AH Shannon Nora N Callier Patrick P Chitayat David D Clayton-Smith Jill J Fitzpatrick David R DR Gisselsson David D Jacquemont Sebastien S Asakura-Hay Keiko K Micale Mark A MA Tolmie John J Turnpenny Peter D PD Wright Michael M Douglas Jenny J Rahman Nazneen N

Nature genetics 20110508 6

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. ...[more]

PMID: 21552266

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