Symbol
| DCX
|
Location
| Xq22.3
|
Name
|
lissencephaly syndrome 2 (or smooth brain) |
Corresponding gene
|
DCX
|
Other symbol(s)
| LISX,SCLH,XLIS
|
Main clinical features
|
neuronal migration disorder resulting in mixed agyria and pachygyria
associated with agenesis of corpus callosum
characterized by epilepsy and mental retardation, including mild form in heterozygote female with mental retardation and subcortical band heterotopia (double cortex) |
Genetic determination
| sex linked |
Prevalence
| account for 85p100 of patients with subcortical band heterotopia (DCX) (Haverfield 2009)
|
Function/system disorder
| congenital malformation |
| mental retardation |
Type
| MCA/MR
|
Name
| doublecortin (DCX), somatic or germinal mutations
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
|  
| non-syndromic mental retardation with cryptogenic epilepsy in female subjects and subcortical band heterotopia in males
| deletion
|  
| absent protein
| a number of large genomic deletions
| |