Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Nat Genet
; 49(4): 511-514, 2017 Apr.
Article
in 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Developmental Disabilities
/
Receptors, Cell Surface
/
Tumor Suppressor Proteins
/
Agenesis of Corpus Callosum
/
Mutation
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Nat Genet
Year:
2017
Document type:
Article