Table 3.
Genes associated with polymicrogyria
Type of PMG | Gene | Mode of inheritance | Reference |
---|---|---|---|
Bilateral frontoparietal PMG | ADGRG1, GPR56 | AR | [27,56] |
Bilateral perisylvian PMG | PIK3R2 | De novo | [57] |
SRPX2 | Maternal | [58] | |
Bilateral temporooccipital PMG | FIG4 | AR | [59] |
Bilateral asymmetric PMG | TUBB2B | AD | [13] |
Bilateral asymmetric PMG and lissencephaly | TUBA1A, TUBB2B | De novo | [61,62,63] |
Bilateral PMG | MECP2 | De novo | [63] |
Unilateral PMG | PAX6 | Maternal | [64] |
PMG and lissencephaly | TUBA1A | AD | [65] |
PMG and agenesis of corpus callosum, microcephaly | EOMES | AD | [30] |
PMG and microcephaly | WDR62, RTTN | AR | [66,67] |
PMG and optic nerve hypoplasia | TUBA8 | AR | [68] |
PMG and band-like calcification | OCLN | AR | [14] |
PMG and Warburg Micro syndrome | RAB18 | AR | [69] |
PMG and Goldberg-Shprintzen syndrome | KIAA1279 | AR | [70] |
PMG and CK syndrome | NSDHL | X-linked | [71] |
PMG and Knobloch syndrome | COL18A1 | AR | [72] |
Warburg Micro syndrome (characterized by ocular and neurodevelopmental abnormalities, including PMG) | RAB3GAP | AR | [73] |
PMG: Polymicrogyria; AD: Autosomal dominant; AR: autosomal recessive