Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

Cilia

Table 1 Ciliopathies caused by mutations in IFT-A genes

IFT-A gene/syndrome	ATD or Jeune syndrome	SRPS	CED	Other ciliopathies
IFT122			CED [26]
IFT140	Jeune syndrome [12, 39] Mainzer-Saldino [12, 39]^a
IFT144/WDR34	Jeune syndrome [6, 40]		CED [6]	Senior-Loken Syndrome [6, 41, 42]
IFT139/TTC21B	Jeune syndrome [17]			Nephronophthisis 12 [17]
IFT121/WDR35		SRPS [13]	CED [25]
IFT43		SRPS present report	CED [27]

^aNow considered the same disorder Jeune syndrome, SRPS, short rib polydactyly syndrome, CED, cranioectodermal dysplasia, ATD, asphyxiating thoracic dysplasia

ISSN: 2046-2530