Table 1. Variants identified in families with recurrent forms of MCD.
| Family | Phenotype | Gene | cDNA variation | Protein variation | Transmission | Parental origin | |
|---|---|---|---|---|---|---|---|
| Germline mosaicism inheritance | P5 | Micolissencephaly | DYNC1H1 | c.1738G>A | p.(Glu580Lys) | Germline mosaicism | Mother |
| P248 | Subcortical band heterotopia | STX7 | c.159A>C | p.(Gln53His) | Somatic mosaicism | Father | |
| P374 | Pseudo-PMG, heterotopia | DYNC1H1 | c.8159G>A | p.(Arg2720Lys) | Germline mosaicism | Unknown | |
| P474 | Polymicrogyria | TUBA1A | c.1148C>T | p.(Ala383Val) | Germline mosaicism | Mother | |
| Autosomal recessive inheritance | P60 | Gyral simplification | ASNS | c.1439C>T | p.(Ser480Phe) | Compound | Mother |
| c.1648C>T | p.(Arg550Cys) | Father | |||||
| P180 | Microcephaly | VPS13B | c.3582delT | p.(Ala1194fs) | Compound | Father | |
| c.6295_6296delAT | p.(Met2124fs) | Mother | |||||
| P231 | Pachygyria | RELN | c.9427T>G | p.(Tyr3143Asp) | Compound | Mother | |
| c.2213G>A | p.Cys738Tyr | Father | |||||
| P286 | Lissencephaly, schizencéphaly | WDR62 | c.2030T>C | p.(Leu677Pro) | Homozygous | Both | |
| P533 | Polymicrogyria | WDR62 | c.2515C>T | p.(Arg839Trp) | Compound | Father | |
| c.3304C>T | p.(Gln1102Ter) | Mother |
Germline mosaic mutations, homozygous and compound heterozygous mutations, as well as parental origin of the mutations are summarized. Reference sequences used: DYNC1H1 (NM_001376.4), STX7 (NM_003569.2), TUBA1A (NM_001270399.1), ASNS (NM_133436.3), VPS13B (NM_017890.4), REELN (NM_005045.3), WDR62 (NM_173636.4).