TABLE 1:
Centrosome-related microcephaly (CRM) genes.
| Gene | OMIM | Functions | Common phenotypes | Variable phenotypes |
|---|---|---|---|---|
| WDR62 | MCPH2 | PCM, spindle integrity and orientation, Aurora A activation | Microcephaly, cortical malformations | Cortical malformations including pachygyria, cortical thickening, lissencephaly, subcortical band heterotopia, polymicrogyria, corpus callosum defects |
| CDK5RAP2 | MCPH3 | PCM, spindle orientation, centriole duplication, Hippo pathway regulation? | Microcephaly | Short stature, simplified gyral patterning, corpus callosum defects, hearing loss |
| ASPM | MCPH5 | PCM, spindle integrity and orientation, regulation of actin cytoskeleton? | Microcephaly | Short stature, seizures, simplified gyral patterning |
| CPAP | MCPH6 SCKL4 | PCM, centriole duplication, centriole growth, ciliary disassembly | Microcephaly, short stature (SCKL) | Seizures |
| STIL | MCPH7 | Centriole duplication | Microcephaly | Holoprosencephaly |
| CEP135 | MCPH8 | PCM | Microcephaly | |
| CEP152 | MCPH9 SCKL5 | PCM, centriole duplication | Microcephaly, short stature (SCKL) | Simplified gyral patterning |
| CDK6 | MCPH12 | MTOC activity, cell cycle length | Microcephaly, simplified gyral patterning | |
| SAS6 | MCPH14 | Centriole duplication | Microcephaly | Seizures, abnormal ventricles, cerebellar hypoplasia |
| CEP63 | SCKL6 | PCM, centriole duplication, CDK1 recruitment | Microcephaly, short stature | |
| NIN | SCKL7 | MTOC activity | Microcephaly, short stature | Immature sulcus patterning |
| TUBGCP4 | MCCRP1 | MTOC activity | Microcephaly, short stature | Eye defects, simplified gyral patterning |
| PLK4 | MCCRP2 | Centriole duplication | Microcephaly, short stature | Eye defects, simplified gyral patterning, small cerebellum and brainstem |
| TUBGCP6 | MCCRP3 | MTOC activity | Microcephaly, eye defects | Corpus callosum defects |
| PCNT | MOPD2 | PCM, MTOC activity | Microcephaly, severe short stature |