Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

K Snape, S Hanks, E Ruark, P Barros-Núñez, A Elliott… - Nature …, 2011 - nature.com
K Snape, S Hanks, E Ruark, P Barros-Núñez, A Elliott, A Murray, AH Lane, N Shannon…
Nature genetics, 2011nature.com
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.
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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