Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Date publication

juin 2011

Auteurs

Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick

Tous les auteurs :
Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/21552266

Résumé

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.

Référence

Nat Genet. 2011 Jun;43(6):527-9