Table 1.
Ciliary genes implicated in craniosynostosis syndromes.
| Gene Symbol |
Associated Syndrome or Phenotype |
Main Pathways/Molecular and Biological Functions |
Involved Suture(s) | OMIM/PubMed Reference |
|---|---|---|---|---|
| ASPM | Microcephaly 5, Primary, Autosomal Recessive |
Centrosome cycle; Cell cycle |
Metopic | #608716, [81] |
| CDC45 | Meier-Gorlin Syndrome (Atypical) | Cell cycle | Coronal | #224690, [82] |
| CEP120 | Short-Rib Thoracic Dysplasia w/o Polydactyly | Cell cycle; Cilium biogenesis and maintenance |
Coronal | #616300 |
| CEP57 | Mosaic Variegated Aneuploidy Syndrome 2 | Cell cycle; Cilium biogenesis and maintenance |
Sagittal | #614114 |
| EVC | Ellis Van Creveld Syndrome | Hedgehog signalling pathway | Sagittal | #225500, [83] |
| FLNA | Otopalatodigital Spectrum Disorders | MAPK signalling pathway | Skull base/Multisuture | *300017, [84] |
| GLI3 | Greig Cephalopolysyndactyly Syndrome |
Hedgehog signalling pathway | Sagittal/Metopic | #175700 |
| IFT122 | Cranioectodermal Dysplasia 1 | Ciliogenesis and/or cilium maintenance; Ciliary protein trafficking; SHH signalling; Signalling by GPCR |
Sagittal | #218330 |
| IFT140 | Short-Rib Thoracic Dysplasia 9 w/o Polydactyly Syndrome | Ciliogenesis and/or cilium maintenance; Signalling by GPCR; Ciliary protein trafficking |
Sagittal | #266920 |
| IFT43 | Cranioectodermal Dysplasia 3 | Ciliogenesis and/or cilium maintenance; Signalling by GPCR; Ciliary protein trafficking |
Sagittal | #614099 |
| IHH | Syndactyly, Type 1, w/o CS | Hedgehog signalling pathway | Sagittal | #185900 |
| MCPH1 | Microcephaly 1, Primary, Autosomal Recessive |
Cell cycle; Bone development |
Variable | #251200 |
| NEK1 | Short-Rib Thoracic Dysplasia 6 w/o Polydactyly | Cilium assembly | Coronal | #263520 |
| RAB23 | Carpenter Syndrome 1 | Cilium assembly | Sagittal/Lambdoid, coronal |
#201000 |
| SMO | Curry–Jones Syndrome | Hedgehog signalling pathway; Axon guidance; Basal cell carcinoma; Pathways in cancer |
Sagittal/Metopic | #601707 |
| TMEM216 | Joubert Syndrome 2 | Cilium assembly | Multisuture | #608091 |
| WDR19 | Cranioectodermal Dysplasia 4 Syndrome (Frontal Bossing) |
Cilium biogenesis and maintenance; Intraflagellar transport; Hedgehog signalling |
Sagittal | #614378 |
| WDR35 | Cranioectodermal Dysplasia 2 Syndrome |
Cilium biogenesis and maintenance; Intraflagellar transport; Hedgehog signalling |
Sagittal | #613610 |
* The asterisk before an entry number indicates a gene of known sequence.