De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability.
Eur J Med Genet
; 56(12): 686-8, 2013 Dec.
Article
en En
| MEDLINE
| ID: mdl-24161494
ABSTRACT
We present the case of a child with mild non-syndromic intellectual disability in whom array genomic hybridization revealed a de novo heterozygous deletion involving only one gene, FMN2. FMN2 encodes FORMIN-2, a member of the formin homology family, which is primarily expressed in the developing and mature brain, and has an important role in cytoskeletal organization and actin nucleation. A heterozygous deletion of FMN2 along with 2 other genes has been recently reported in a boy with non-syndromic intellectual disability. This report provides further support for the important role of FMN2 in brain development and cognition.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Nucleares
/
Eliminación de Gen
/
Discapacidad Intelectual
/
Proteínas de Microfilamentos
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Canadá