Table 5:

Gene mutations associated with cleft palate in humans^a

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.

^aOther 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