Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Nat Genet
; 43(6): 527-9, 2011 Jun.
Article
en En
| MEDLINE
| ID: mdl-21552266
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas Nucleares
/
Proteínas Asociadas a Microtúbulos
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Reino Unido