Table 5.
Genetics of ‘Malformation of Cortical Development (MCD)’
| MCD subtype | Gene | Chromosome | Protein |
|---|---|---|---|
| Miller-Dieker type lissencephaly | LIS1 | 17p13 | PAFAH1B1 |
| X-linked lissencephaly (XLIS) (male) | DCX | Xq22 | DCX or doublecortin |
| Subcortical band heterotopia (SBH) (female) | DCX | Xq22 | DCX or doublecortin |
| Lissencephaly with cerebellar hypoplasia (LCH) | RELN | 7q22 | Reelin |
| Lissencephaly with cerebellar hypoplasia (LCH) | TUBA1A | 12q13.12 | Tubulin alpha 1A |
| X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG) | ARX | Xp22.13 | ARX |
| Fukuyama congenital muscular dystrophy (FCMD) | FCMD | 9q31 | Fukutin |
| Muscle-eye-brain disease (MEB) | POMGnT1 | 1p32 | POMGnT1 |
| Periventricular nodular heterotopia (PH) | FLN1 | Xq28 | Filamin1 |
| Tuberous sclerosis complex (TSC) | TSC1 | 9q34 | Hamartin |
| Tuberous sclerosis complex (TSC) | TSC2 | 16p13 | Tuberin |
| Focal cortical dysplasia (FCD) | Unknown | Unknown | Unknown |
ARX, X-linked aristaless-related homeobox gene; DCX, doublecortin; FLN1, filamin1, PAFAH1B1, platelet activating factor acetylhydrolase b subunit; POMGnT1, protein O-mannose b1,2-N-acetylglucosaminyltransferase; RELN, reelin; TUBA1A, tubulin alpha 1A; XLAG, X-linked lissencephaly with absent corpus callosum and ambiguous genitalia Modified from the reference 48.