Table 1 Brain malformations and genes associated with abnormal neuron positioning
From: Genes and brain malformations associated with abnormal neuron positioning
Type | Gene | Location | Description |
|---|---|---|---|
Lissencephaly type I | Â | Â | Â |
Lissencephaly (Autosomal dominant) | LIS1 | 17p13.3 | Microtubule-associated protein |
 Isolated lissencephaly sequence (ILS) or subcortical band heterotopia (SBH) | TUBA1A | 12q13.12 | Constituent of microtubules |
 Miller-Dieker syndrome | LIS1 + YWHAE | 17p13.3 | Microtubule-associated protein |
Lissencephaly (X-linked) | Â | Â | Â |
 ILS or SBH | DCX | Xq22.3-q23 | Microtubule-associated protein |
 X-linked lissencephaly with abnormal genitalia | ARX | Xp21.3 | Transcription factor |
Lissencephaly (Autosomal recessive) | Â | Â | Â |
 Lissencephaly with cerebellar hypoplasia (LCH) group b | RELN | 7q22 | Extracellular matrix serine protease |
| Â | VLDLR | 9q24 | Binds VLDL and transports it into cells by endocytosis |
Lissencephaly type II: Cobblestone complex (Autosomal recessive) | Â | Â | Â |
Fukuyama congenital muscular dystrophy or Walker–Warburg syndrome (WWS) | FKTN | 9q31.2 | Involved in glycosylation |
Muscle–eye–brain disease (MEB) or WWS | POMT1 | 9q34.13 | Protein-O-mannosyltransferase 1 |
| Â | POMT2 | 14q24.3 | Protein-O-mannosyltransferase 2 |
| Â | POMGNT2 | 3p22.1 | O-linked mannose acetylglucosaminyltransferase |
| Â | FKRP | 19q13.32 | Involved in glycosylation |
MEB | LARGE | 22q12.3 | Glycosyltransferase |
| Â | POMGnT1 | 1p34.1 | Participates in O-mannosyl glycosylation |
Bilateral frontoparietal polymicrogyria | GPR56 | 16q21 | G protein-coupled receptor 56 |
CEDNIK syndrome | SNAP29 | 22q11.21 | Synaptosomal-associated protein |
Muscular dystrophy | ISPD | 7q21.2 | Required for protein O-linked mannosylation |
| Â | GTDC2 | 3p22.1 | O-linked mannose acetylglucosaminyltransferase |
| Â | TMEM5 | 12q14.2 | Glycosyltransferase function |
| Â | B3GALNT2 | 1q42.3 | Beta-1,3-N-acetylgalactosaminyltransferase |
| Â | SGK196 | 8q11.21 | Protein O-mannose kinase |
| Â | B3GNT1 | 11q13.2 | Synthesis of the linear poly-N-acetyllactosaminoglycans |
| Â | GMPPB | 3p21.31 | GDP-mannose pyrophosphorylase |
Polymicrogyria | Â | Â | Â |
| Â | TUBB2 | 6p25 | Major constituent of microtubules |
| Â | GPR56 | 16q21 | G protein-coupled receptor 56 |
| Â | SRPX2 | Xq22.1 | Plays a role in angiogenesis |
| Â | TBR2 | 3p24.1 | Transcriptional activator |
| Â | PAX6 | 11p13 | Transcription factor |
| Â | KIAA1279 | 10q22.1 | Organization of axonal microtubules |
| Â | RAB3GAP1 | 2q21.3 | RAB3 GTPase Activating Protein Subunit |
Adams-Oliver syndrome (AOS) | ARHGAP31 | 3q13.33 | Required for cell spreading |
 AOS | RBPJ | 4p15.2 | Plays a central role in Notch signaling |
 AOS | DOCK6 | 19p13.2 | Atypical guanine nucleotide exchange factors |
 AOS | EOGT | 3p14.1 | EGF domain-specific GlcNAc transferase |
 AOS | NOTCH1 | 9q34.3 | Play multiple roles during development |
Heterotopia | Â | Â | Â |
Heterotopia (X-linked Autosomal dominant) | Â | Â | Â |
 Classical bilateral periventricular heterotopia (PH) | FLNA | Xq28 | Actin-binding protein |
 PH with fragile-X syndrome | FMR1 | Xq27.3 | Translation repressor |
 PH and Williams syndrome | WBSCR16 | 7q11.23 | Guanine nucleotide exchange factor |
 PH | PVNH3 | 5p15.1 | Periventricular Nodular Heterotopia 3 |
 PH | PVNH5 | 5q14.3-q15 | Periventricular Nodular Heterotopia 5 |
Heterotopia (Autosomal recessive) | Â | Â | Â |
 PH with microcephaly | ARFGEF2 | 20q13.13 | Intracellular vesicular trafficking |
 PH with Donnai–Barrow syndrome | LRP2 | 2q31.1 | Low density lipoprotein-related protein 2 |
Microcephaly | Â | Â | Â |
| Â | WDR62 | 19q13.12 | Required for cerebral cortical development |
| Â | KIAA1279 | 10q22.1 | Organization of axonal microtubules |
| Â | RAB3GAP1 | 2q21.3 | RAB3 GTPase Activating Protein Subunit |
| Â | ARFGEF2 | 20q13.13 | Intracellular vesicular trafficking |
Focal cortical dysplasia | Â | Â | Â |
| Â | TSC1 | 9q34.13 | Negatively regulating mTORC signaling |
| Â | TSC2 | 16p13.3 | Negatively regulating mTORC signaling |
Hemimegalencephaly | Â | Â | Â |
| Â | PIK3CA | 3q26.32 | Serine/threonine kinase - component of PI3K/AKT signaling |
| Â | AKT3 | 1q44 | Serine/threonine kinase - component of PI3K/AKT signaling |
|  | MTOR | 1p36.22 | Serine/threonine kinase – component of PI3K/AKT signaling |