Panel 13: Defects brain morphogenesis


Includes:

• Microcefalia
• Abnormalities of the septum pellucidum
• Holoprosencephaly
• Schizencephaly
• Lissencephaly type I and II
• Neural Heterotopias
• Agenesis of the corpus callosum
• Megalencephaly
• Macrocefalia and hemimegalencephaly
• pontocerebellar hypoplasia
• Brain Dysgenesis
• Cortical dysplasia

The early embryonic stage is characterized by the formation of the primary structures (neural tube, brain vesicles). Fetal development in two critical events for the development of the nervous system appear: differentiation of nerve cells and glia and their migration to occupy definite areas (cores, bark); produced after birth the defining phenomenon of morphogenetic system development is the process of arborization and myelination. Development disturbances that originate during fetal life are generally caused by changes in neuronal cell migration and proliferation, or both.

NMG13: Defects brain morphogenesis

Panel 13: Neuronal migration disorders

Included genes:

SHH HESX1 ARX OFD1
ZIC2 SOX2 VLDLR SLC12A6
SIX3 SOX3 POMT1 MED12
TGIF1 OTX2 FKRP FLNA
GLI2 PAX3 FKTN ERMARD
DISP1 EMX2 POMT2 CASK
FOXH1 SIX3 POMGNT1 UPF3B
NODAL SHH LARGE BRWD3
CDON GPR56 ISPD L1CAM
PTCH1 LIS1 COL4A1 PIK3CA
DLL1 PAFAH1B1 ARFGEF2 AKT3
FGF8 RELN DCX MTOR
GAS1 TUBA1A PAFAH1B1 AKT3
TDGF1 NDE1 DCX PIK3R2
PIK3CA CEP63 VRK1 ZNF592
MCPH1 NIN EXOSC3 MEF2C
WDR62 MYCN TSEN54 KPTN
CDK5RAP2 MIR17HG TSEN2 TRMT10A
CASC5 RBBP8 TSEN34 IER3IP1
ASPM SLC25A19 SEPSECS VPS53
CENPJ MED17 TSEN54 CLP1
STIL KIF11 RARS2 TUBB2A
CEP135 TUBGCP6 CHMP1A TUBB2B
CEP152 NHEJ1 GLUL TUBB3
ATR CASK SNAP29 TUBB
RBBP8 EFTUD2 CDK6 TUBB4A
CENPJ IER3IP1 ARFGEF2 CNTNAP2
CEP152 OCLN TBC1D7 TUBG1
KIF2A EML1 CBL TUBA8
KIF5C OPHN1 MAP2 TUBB5