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