Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Signs for LCA/EOSRD |
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Signs for RP |
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Visual function |
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Systemic features | Main features
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | OcularSystemic
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Therapies under research |
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Further information |
Additional information
Homozygous or compound heterozygous mutations in IFT40 can lead to either syndromic (Jeune asphyxiating thoracic dystrophy and Mainzer-Saldino syndrome) or non-syndromic retinal dystrophies manifesting as LCA/RP. No genotype-phenotype correlations have been established at present.
References
- Absalon, S., Blisnick, T., Kohl, L., Toutirais, G., Dore, G., Julkowska, D., Tavenet, A., Bastin, P., 2008. Intraflagellar transport and functional analysis of genes required for flagellum formation in trypanosomes. Molecular biology of the cell 19, 929-944
- Miller, K.A., Ah-Cann, C.J., Welfare, M.F., Tan, T.Y., Pope, K., Caruana, G., Freckmann, M.L., Savarirayan, R., Bertram, J.F., Dobbie, M.S., Bateman, J.F., Farlie, P.G., 2013. Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. PLoS genetics 9, e1003746
- Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A. A., Collins, F., Salih, M. A. M., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., and 18 others. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am. J. Hum. Genet. 90: 864-870, 2012
- Schmidts M, Frank V, Eisenberger T, et al. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat. 2013;34(5):714-724
- Bifari IN, Elkhamary SM, Bolz HJ, Khan AO. The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. Br J Ophthalmol. 2016;100(6):829-833
- Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G.E., Michaelides, M., Carss, K., Raymond, F.L., Rozet, J.M., Ramsden, S.C., Black, G.C., Perrault, I., Sarkar, A., Moosajee, M., Webster, A.R., Arno, G., Moore, A.T., 2016. Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. Invest. Ophthalmol. Vis. Sci. 57, 1053-1062
- Xu, M., Yang, L., Wang, F., Li, H., Wang, X., Wang, W., Ge, Z., Wang, K., Zhao, L., Li, H., Li, Y., Sui, R., Chen, R., 2015. Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum. Genet. 134, 1069-1078
- Beheshtian, M., Saee Rad, S., Babanejad, M., Mohseni, M., Hashemi, H., Eshghabadi, A., Hajizadeh, F., Akbari, M.R., Kahrizi, K., Riazi Esfahani, M., Najmabadi, H., 2015. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. Arch. Iran. Med. 18, 776-785