Defects in the IFT-B component IFT172 cause jeune and mainzer-saldino syndromes in humans

American Journal of Human Genetics

Volumn 93, Issue 5, 2013, Pages 915-925

  Halbritter, Jan ^a   Bizet, Albane A ^b,c   Schmidts, Miriam ^d   Porath, Jonathan D ^a   Braun, Daniela A ^a   Gee, Heon Yung ^a   McInerney Leo, Aideen M ^e   Krug, Pauline ^b,c   Filhol, Emilie ^b,c   Davis, Erica E ^f   Airik, Rannar ^a   Czarnecki, Peter G ^g,h,i   Lehman, Anna M ^j   Trnka, Peter ^e   Nitschké, Patrick ^c   Bole Feysot, Christine ^k   Schueler, Markus ^a   Knebelmann, Bertrand ^b   Burtey, Stéphane ^l   Szabó, Attila J ^m   Tory, Kálmán ^b,m   Leo, Paul J ^e   Gardiner, Brooke ^e   McKenzie, Fiona A ^n,o   Zankl, Andreas ^e,p,q,r   Brown, Matthew A ^e   Hartley, Jane L ^s   Maher, Eamonn R ^t,u   Li, Chunmei ^v   Leroux, Michel R ^v   Scambler, Peter J ^d   Zhan, Shing H ^w   Jones, Steven J ^j,w   Kayserili, Hülya ^x   Tuysuz, Beyhan ^y   Moorani, Khemchand N ^z   Constantinescu, Alexandru ^aa   Krantz, Ian D ^ab   Kaplan, Bernard S ^ab   Shah, Jagesh V ^g,i,ac   Hurd, Toby W ^ad   Doherty, Dan ^ae   Katsanis, Nicholas ^f   Duncan, Emma L ^e,o,af   Otto, Edgar A ^ad   Beales, Philip L ^d   Mitchison, Hannah M ^d   Saunier, Sophie ^b,c   Hildebrandt, Friedhelm ^a,ag   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF QUEENSLAND   (Australia)

^f DUKE UNIVERSITY   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

ⁱ HARVARD MIT DIVISION OF HEALTH SCIENCES AND TECHNOLOGY   (United States)

^j UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^k IMAGINE INSTITUTE   (France)

^l HÔPITAL DE LA CONCEPTION   (France)

^m SEMMELWEIS UNIVERSITY   (Hungary)

ⁿ Genetic Services of Western Australia   (Australia)

^o UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^p UNIVERSITY OF QUEENSLAND   (Australia)

^q UNIVERSITY OF SYDNEY   (Australia)

^r CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^s BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^t UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^u UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^v SIMON FRASER UNIVERSITY   (Canada)

^w BRITISH COLUMBIA CANCER AGENCY   (Canada)

^x ISTANBUL UNIVERSITY   (Turkey)

^y ISTANBUL UNIVERSITY   (Turkey)

^z NATIONAL INSTITUTE OF CHILD HEALTH   (Pakistan)

^aa JOE DIMAGGIO CHILDREN S HOSPITAL   (United States)

^ab CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^ac BRIGHAM AND WOMEN S HOSPITAL   (United States)

^ad UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^ae UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^af ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^ag Howard Hughes Medical Institute   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTRAFLAGELLAR TRANSPORT B; MOLECULAR MOTOR; UNCLASSIFIED DRUG;

ALLELE; APLASIA; ARTICLE; CELLULAR DISTRIBUTION; EUKARYOTIC FLAGELLUM; EXCISION REPAIR; EXON; FRAMESHIFT MUTATION; GENE INTERACTION; GENE MUTATION; GENETIC CONSERVATION; HUMAN; HYPOPLASIA; INTRON; JEUNE SYNDROME; JOUBERT SYNDROME; MISSENSE MUTATION; MUCOCILIARY TRANSPORT; NEPHRONOPHTHISIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SALDINO MAINZER SYNDROME; SYNDROME; ZEBRA FISH;

DANIO RERIO;

EID: 84890219086     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.09.012     Document Type: Article

References (39)

1. Baker, K., and Beales, P.L. (2009). Making sense of cilia in disease: the human ciliopathies. Am. J. Med. Genet. C. Semin. Med. Genet. 151C, 281-295.
2. Hildebrandt, F., Benzing, T., and Katsanis, N. (2011). Ciliopathies. N. Engl. J. Med. 364, 1533-1543.
3. Badano, J.L., Mitsuma, N., Beales, P.L., and Katsanis, N. (2006). The ciliopathies: an emerging class of human genetic disorders. Annu. Rev. Genomics Hum. Genet. 7, 125-148.
4. Huber, C., and Cormier-Daire, V. (2012). Ciliary disorder of the skeleton. Am. J. Med. Genet. C. Semin. Med. Genet. 160C, 165-174.
5. Czarnecki, P.G., and Shah, J.V. (2012). The ciliary transition zone: from morphology and molecules to medicine. Trends Cell Biol. 22, 201-210.
6. Arts, H.H., Bongers, E.M.H.F., Mans, D.A., van Beersum, S.E.C., Oud, M.M., Bolat, E., Spruijt, L., Cornelissen, E.A.M., Schuurs- Hoeijmakers, J.H.M., de Leeuw, N., et al. (2011). C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J. Med. Genet. 48, 390-395.
7. Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D., Brown, D.A., Emma, F., Klingenberg, C., Hennekam, R.C., Torre, G., Garshasbi, M., Tzschach, A., et al. (2010). Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am. J. Hum. Genet. 86, 949-956.
8. Gilissen, C., Arts, H.H., Hoischen, A., Spruijt, L., Mans, D.A., Arts, P., van Lier, B., Steehouwer, M., van Reeuwijk, J., Kant, S.G., et al. (2010). Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am. J. Hum. Genet. 87, 418-423.
9. Bredrup, C., Saunier, S., Oud, M.M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S.M., Midtbø, M., Filhol, E., Bole- Feysot, C., et al. (2011). Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am. J. Hum. Genet. 89, 634-643.
10. Davis, E.E., Zhang, Q., Liu, Q., Diplas, B.H., Davey, L.M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C.V., et al.; NISC Comparative Sequencing Program. (2011). TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat. Genet. 43, 189-196.
11. Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A.A., Collins, F., Salih, M.A., Gerber, S., Delphin, N., Bigot, K., et al. (2012). Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am. J. Hum. Genet. 90, 864-870.
12. Dagoneau, N., Goulet, M., Geneviéve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., et al. (2009). DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type 3. Am. J. Hum. Genet. 84, 706-711.
13. Thiel, C., Kessler, K., Giessl, A., Dimmler, A., Shalev, S.A., von der Haar, S., Zenker, M., Zahnleiter, D., Sto?ss, H., Beinder, E., et al. (2011). NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am. J. Hum. Genet. 88, 106-114.
14. Ruiz-Perez, V.L., Ide, S.E., Strom, T.M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., et al. (2000). Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat. Genet. 24, 283-286.
15. Ruiz-Perez, V.L., Tompson, S.W., Blair, H.J., Espinoza-Valdez, C., Lapunzina, P., Silva, E.O., Hamel, B., Gibbs, J.L., Young, I.D., Wright, M.J., and Goodship, J.A. (2003). Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am. J. Hum. Genet. 72, 728-732.
16. Beales, P.L., Bland, E., Tobin, J.L., Bacchelli, C., Tuysuz, B., Hill, J., Rix, S., Pearson, C.G., Kai, M., Hartley, J., et al. (2007). IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat. Genet. 39, 727-729.
17. Huangfu, D., Liu, A., Rakeman, A.S., Murcia, N.S., Niswander, L., and Anderson, K.V. (2003). Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature 426, 83-87.
18. Murcia, N.S., Richards, W.G., Yoder, B.K., Mucenski, M.L., Dunlap, J.R., and Woychik, R.P. (2000). The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination. Development 127, 2347-2355.
19. Chaki, M., Hoefele, J., Allen, S.J., Ramaswami, G., Janssen, S., Bergmann, C., Heckenlively, J.R., Otto, E.A., and Hildebrandt, F. (2011). Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int. 80, 1239-1245.
20. Halbritter, J., Diaz, K., Chaki, M., Porath, J.D., Tarrier, B., Fu, C., Innis, J.L., Allen, S.J., Lyons, R.H., Stefanidis, C.J., et al. (2012). High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J. Med. Genet. 49, 756-767.
21. Lehman, A.M., Eydoux, P., Doherty, D., Glass, I.A., Chitayat, D., Chung, B.Y.H., Langlois, S., Yong, S.L., Lowry, R.B., Hildebrandt, F., and Trnka, P. (2010). Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am. J. Med. Genet. A. 152A, 1411-1419.
22. Halbritter, J., Porath, J.D., Diaz, K.A., Braun, D.A., Kohl, S., Chaki, M., Allen, S.J., Soliman, N.A., Hildebrandt, F., and Otto, E.A.; GPN Study Group. (2013). Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis- related ciliopathy. Hum. Genet. 132, 865-884.
23. Casteels, I., Demandt, E., and Legius, E. (2000). Visual loss as the presenting sign of Jeune syndrome. Eur. J. Paediatr. Neurol. 4, 243-247.
24. Tüysüz, B., Barisx, S., Aksoy, F., Madazli, R., Unguür, S., and Sever, L. (2009). Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. Am. J. Med. Genet. A. 149A, 1727-1733.
25. McInerney-Leo, A.M., Schmidts, M., Cortés, C.R., Leo, P.J., Gener, B., Courtney, A.D., Gardiner, B., Harris, J.A., Lu, Y., Marshall, M., et al.; UK10K Consortium. (2013). Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60. Am. J. Hum. Genet. 93, 515-523.
26. Hildebrandt, F., Heeringa, S.F., Rüschendorf, F., Attanasio, M., Nürnberg, G., Becker, C., Seelow, D., Huebner, N., Chernin, G., Vlangos, C.N., et al. (2009). A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet. 5, e1000353.
27. Troelstra, C., van Gool, A., deWit, J., Vermeulen,W., Bootsma, D., and Hoeijmakers, J.H.J. (1992). ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 71, 939-953.
28. Pedersen, L.B., Miller, M.S., Geimer, S., Leitch, J.M., Rosenbaum, J.L., and Cole, D.G. (2005). Chlamydomonas IFT172 is encoded by FLA11, interacts with CrEB1, and regulates IFT at the flagellar tip. Curr. Biol. 15, 262-266.
29. Friedland-Little, J.M., Hoffmann, A.D., Ocbina, P.J.R., Peterson, M.A., Bosman, J.D., Chen, Y., Cheng, S.Y., Anderson, K.V., and Moskowitz, I.P. (2011). A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus. Hum. Mol. Genet. 20, 3725-3737.
30. Tsao, C.-C., and Gorovsky, M.A. (2008). Different effects of Tetrahymena IFT172 domains on anterograde and retrograde intraflagellar transport. Mol. Biol. Cell 19, 1450-1461.
31. Sun, Z., Amsterdam, A., Pazour, G.J., Cole, D.G., Miller, M.S., and Hopkins, N. (2004). A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. Development 131, 4085-4093.
32. Sukumaran, S., and Perkins, B.D. (2009). Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants. Vision Res. 49, 479-489.
33. Lunt, S.C., Haynes, T., and Perkins, B.D. (2009). Zebrafishift57, ift88, and ift172 intraflagellar transport mutants disrupt cilia but do not affect hedgehog signaling. Dev. Dyn. 238, 1744-1759.
34. Schmidts, M., Arts, H.H., Bongers, E.M.H.F., Yap, Z., Oud, M.M., Antony, D.,Duijkers, L., Emes, R.D., Stalker, J., Yntema, J.-B.L., et al.; UK10K. (2013). Exome equencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J. Med. Genet. 50, 309-323.
35. Gorivodsky, M., Mukhopadhyay, M.,Wilsch-Braeuninger, M., Phillips, M., Teufel, A., Kim, C., Malik, N., Huttner, W., and Westphal, H. (2009). Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain. Dev. Biol. 325, 24-32.
36. Schmidts, M., Frank, V., Eisenberger, T., Al Turki, S., Bizet, A.A.,Antony, D., Rix, S., Decker, C., Bachmann, N., Bald, M., et al. (2013). Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum. Mutat. 34, 714-724.
37. Follit, J.A., Xu, F., Keady, B.T., and Pazour, G.J. (2009). Characterization of mouse IFT complex B. Cell Motil. Cytoskeleton 66, 457-468.
38. Nachury, M.V., Loktev, A.V., Zhang, Q., Westlake, C.J., Peränen, J., Merdes, A., Slusarski, D.C., Scheller, R.H., Bazan, J.F., Sheffield, V.C., and Jackson, P.K. (2007). A core complex of BBS proteins cooperates with the GTPase Rab8 to promoteciliary membrane biogenesis. Cell 129, 1201-1213.
39. Sang, L., Miller, J.J., Corbit, K.C., Giles, R.H., Brauer, M.J., Otto, E.A., Baye, L.M., Wen, X., Scales, S.J., Kwong, M., et al. (2011). Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145, 513-528.