Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Nat Genet
; 49(4): 511-514, 2017 Apr.
Article
en En
| MEDLINE
| ID: mdl-28250454
ABSTRACT
Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Discapacidades del Desarrollo
/
Receptores de Superficie Celular
/
Proteínas Supresoras de Tumor
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Agenesia del Cuerpo Calloso
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2017
Tipo del documento:
Article
País de afiliación:
Australia