Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Fiche publication
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
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