BRAIN MALFORMATIONS
COMPREHENSIVE PANEL

AHI1, ARFGEF2, ARX, CASK, CC2D2A, CEP290, CEP41, DCX, EOMES, FKRP, FKTN, FLNA, GPR56, KIF7, LAMC3, LARGE, MKS1, NDE1, NPHP1, OCLN, OPHN1, PAFAH1B1, POMGNT1, POMT1, POMT2, PQBP1, RARS2, RELN, RPGRIP1L, SRPX2, TMEM138, TMEM216, TMEM237, TMEM67, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VRK1

Description

SCIENTIFIC BACKGROUND

The development of the human cerebral cortex involves complex developmental processes that eventually lead to the characteristic six-layer structure of the mature cerebral cortex. Central events in this process are neuronal proliferation, migration and finally postmigratory cortical organization during fetal brain development. Disorders in these developmental steps lead to the formation of various malformations, which can be subdivided and labeled either according to morphology (e.g., lissencephaly), anatomical structures (e.g., pontocerebellar hypoplasias), or functional criteria (e.g., tubulinopathies). When genetic causes are considered, there is clinical and genetic overlap. Meanwhile, more than 100 genes are known to control these complicated processes.

 

References

Parrini et al. 2016, Mol Syndromol 7:220 / Mirzaa et al. 2014, Am J Med Genet 166C:117

GENES

AHI1, ARFGEF2, ARX, CASK, CC2D2A, CEP290, CEP41, DCX, EOMES, FKRP, FKTN, FLNA, GPR56, KIF7, LAMC3, LARGE, MKS1, NDE1, NPHP1, OCLN, OPHN1, PAFAH1B1, POMGNT1, POMT1, POMT2, PQBP1, RARS2, RELN, RPGRIP1L, SRPX2, TMEM138, TMEM216, TMEM237, TMEM67, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VRK1
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