Refining the phenotype associated with MEF2C haploinsufficiency.
Clin Genet
; 78(5): 471-7, 2010 Nov.
Article
em En
| MEDLINE
| ID: mdl-20412115
ABSTRACT
Recently, submicroscopic deletions of the 5q14.3 region have been described in patients with severe mental retardation (MR), stereotypic movements, epilepsy and cerebral malformations. Further delineation of a critical region of overlap in these patients pointed to MEF2C as the responsible gene. This finding was further reinforced by the identification of a nonsense mutation in a patient with a similar phenotype. In brain, MEF2C is essential for early neurogenesis, neuronal migration and differentiation. Here we present two additional patients with severe MR, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the MEF2C gene. This finding strengthens the role of this gene in severe MR, and enables further delineation of the clinical phenotype.
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Base de dados:
MEDLINE
Assunto principal:
Fatores de Regulação Miogênica
/
Proteínas de Domínio MADS
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article