Article
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Nature genetics - 1 Jun 2011
Snape Katie, Hanks Sandra, Ruark Elise, Barros-Núñez Patricio, Elliott Anna, Murray Anne, Lane Andrew H, Shannon Nora, Callier Patrick, Chitayat David, Clayton-Smith Jill, Fitzpatrick David R, Gisselsson David, Jacquemont Sebastien, Asakura-Hay Keiko, Micale Mark A, Tolmie John, Turnpenny Peter D, Wright Michael, Douglas Jenny, Rahman Nazneen
Abstract excerpt
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...
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