Genetics and Management of the Patient with Orofacial Cleft

Table 1

Main GWAS hits and genes possibly involved according to the authors.

Region	Possible gene involved	Function*
8q24	No know gene
10q25	VAX1 [64]	Transcription factor, apparently involved in the development of the anterior ventral forebrain.
1p22	ABCA4 [64]	Transmembrane protein expressed in retinal photoreceptors. Mutations are involved with retinopathies.
17q22	NOG [65]	Secreted protein; binds and inactivates TGFβ ^1 proteins. Mutations are involved with bony fusion malformations, mainly in head and hands.
20q12	MAFB [64]	Transcription factor, acts in the differentiation and regulation of hematopoietic cell lineages. Mutations cause multicentric carpotarsal osteolysis syndrome.
1p36	PAX7 [64]	Transcription factor. Plays a role during neural crest development. Defects cause a form of rhabdomyosarcoma.
2p21	THADA [65]	Unclear function. Defects are related with thyroid tumors.
13q31.1	SPRY2 [65]	Citoplasm protein, colocalized with cytoskeleton proteins. Possibly acts as antagonist of FGF^2.
15q13.1	FMN1 [65]	Peripheral membrane protein plays a role in cell-cell adhesion.
	GREM1 [65]	Secreted protein; BMP^3 antagonist, expressed in fetal brain, small intestine, and colon.
17p13	NTN1 [64]	Extracellular matrix protein, mediates axon outgrowth and guidance. It may regulate diverse cancer tumorigenesis.

*According to OMIM database.
¹Transforming growth factor beta.
²Fibroblast growth factor.
³Bone morphogenetic protein.