LIS1 duplication: expanding the phenotype.
J Child Neurol
; 27(6): 791-5, 2012 Jun.
Article
in En
| MEDLINE
| ID: mdl-22190508
ABSTRACT
Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration. We report a partial LIS1 duplication in a child with microcephaly, neurodevelopmental delays, and profound white matter atrophy in the absence of overt lissencephaly. The duplicated genetic segment was contained entirely within the first intron of LIS1, a segment that often contains inducers of transcription. Normal gyral patterns with mild volume loss were observed at birth. Follow-up cranial imaging revealed further white matter loss, diminished sulcation, and ventriculomegaly, suggesting expanding hydrocephalus ex vacuo. The radiographic pattern has not been documented in the presence of a LIS1 gene abnormality, and suggests that altered expression of LIS1 has wider phenotypic manifestations than currently defined.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Genes, Duplicate
/
1-Alkyl-2-acetylglycerophosphocholine Esterase
/
Classical Lissencephalies and Subcortical Band Heterotopias
/
Microtubule-Associated Proteins
Type of study:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
J Child Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2012
Document type:
Article
Affiliation country:
Estados Unidos