Gene mutations associated with cleft palate in humansa
| Genes | Associated Conditions |
|---|---|
| Collagen genes, COL II and XI | Otospondylomegaepiphyseal dysplasia, |
| achondrogenesis type II, | |
| Stickler syndrome types I-III | |
| Diastrophic dysplasia sulfate transporter | Diastrophic dysplasia |
| FGFR2 | Apert syndrome |
| Homeobox MSX1 | Cleft palate and hypodontia |
| TGFβ R1 or TGFβR2 | Aortic aneurysm, arterial tortuosity, hypertelorism, cleft palate, bifid uvula, craniosynostosis |
| T-Box 1 (BX1) | DiGeorge/Velo cardiofacial syndrome |
| T-Box 22 (TBX22) | X-linked cleft palate and ankyloglossia |
| TCOF1 | Treacher Collins syndrome |
| TWIST | Saethre-Chotzen syndrome |
Note:—FGFR2 indicates fibroblast growth factor receptor 2.
↵a Other genes and proteins associated with normal palatal formation include the following: Fgf-Shh signaling, Tbx22, BMPs, Jagged-2, Pax-9, serotonin, hyaluronan, PVRL1, TGF-β3, TGF-α, EGF, Lhx-8, Msx-1, and GABA (Fig 1). Table modified from Rice DP. Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med 2005;5:699–722, Table 2, © Bentham Science Publishers.16