Table 2

Summary of OFD phenotype as well as localisation and function of OFD proteins

Gene	Protein localisation	Functional protein complex	Protein function	OFD subtype	Preaxial polydactyly	Postaxial polydactyly	Retinopathy	Renal anomaly	Cerebral malformation	MTS	Tibial dysplasia	Reference
OFD1	Centrosome/BB	OFD1-KIAA0753-FOPNL	Negative regulator of centriole elongation	OFDI	x			x	x			Ferrante et al 20017
C2CD3	Centrosome/TF	-	Positive regulator of centriole elongation	OFDXIV		x	x		x			Thauvin-Robinet et al 20146
KIAA0753/OFIP	Centrosome	OFD1-KIAA0753-FOPNL	Recruitment of OFD1 at centriole	OFD VI		x			x	x		Chevrier et al 201634
SCTL1	Centrosome/TF	-	Unknown, ciliogenesis	OFDIX					x			Adly et al201414
TBC1D32	Centrosome	-	Unknown	OFDIX		x			x			Adly et al201414
DDX59	Cytosol/?	-	Regulation of ciliary signalling	OFDV		x						Present study
INTU	BB	CPLANE	IFT-A preassembly	OFDII?		x		x				Toriyama et al 201633
WDPCP	BB	CPLANE	IFT-A preassembly	-		x						Toriyama et al 201633
C5orf42	BB/TZ	CPLANE	IFT-A preassembly	OFDVI	x	x			x	x		Lopes et al 201435
TCTN3	TZ	-	Regulation of ciliary signalling	OFDIV	x	x		x	x		x	Thomas et al 201222
TMEM216	TZ	MKS	Ciliary gate formation	OFDVI	x	x			x			Valente et al 201043
TMEM231	TZ	MKS	Ciliary gate formation	OFDVI?		x			x			Li et al 201631
TMEM107	TZ	MKS	Ciliary gate formation	OFDVI		x	x		x	x		Lambacher et al 201630
TMEM138	TZ	-	Vesicular transport	OFDVI					x	x		Li et al 201631
IFT57	BB/axoneme	IFT-B	Intraflagellar transport	-		x						Thevenon et al 201632

BB, basal body; IFT-A, retrograde intraflagellar transport; IFT-B, anterograde intraflagellar transport; MKS, Meckel-Gruber syndrome; MTS, molar tooth sign; OFD, oral–facial–digital; TF, transition fibres.