Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

American Journal of Human Genetics

Volumn 86, Issue 6, 2010, Pages 949-956

  Walczak Sztulpa, Joanna ^a,b   Eggenschwiler, Jonathan ^c   Osborn, Daniel ^d   Brown, Desmond A ^c   Emma, Francesco ^e   Klingenberg, Claus ^f   Hennekam, Raoul C ^d,g   Torre, Giuliano ^e   Garshasbi, Masoud ^a   Tzschach, Andreas ^a   Szczepanska, Malgorzata ^b   Krawczynski, Marian ^b   Zachwieja, Jacek ^b   Zwolinska, Danuta ^h   Beales, Philip L ^d   Ropers, Hans Hilger ^a   Latos Bielenska, Anna ^b,i   Kuss, Andreas W ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^c PRINCETON UNIVERSITY   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^g ACADEMIC MEDICAL CENTER   (Netherlands)

^h WROCLAW MEDICAL UNIVERSITY   (Poland)

ⁱ Center for Medical Genetics   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

INTRAFLAGELLAR TRANSPORT 122 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAVALLAZZI SYNDROME; CHILD; CHROMOSOME 3Q; CILIOPATHY; CLINICAL ARTICLE; COHORT ANALYSIS; CONSANGUINITY; CONTROLLED STUDY; CRANIOECTODERMAL DYSPLASIA; EMBRYO; EUKARYOTIC FLAGELLUM; FAMILY; FEMALE; FIBROBLAST; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; KIDNEY FAILURE; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; RESPIRATORY TRACT INFECTION; RNA SPLICING; SCHOOL CHILD; SCORING SYSTEM; ZEBRA FISH;

CHILD; CHILD, PRESCHOOL; CILIARY MOTILITY DISORDERS; CRANIOFACIAL ABNORMALITIES; ECTODERMAL DYSPLASIA; FEMALE; HUMANS; INFANT; MALE; MUTATION; PROTEINS;

DANIO RERIO; EUKARYOTA;

EID: 77953120200     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.04.012     Document Type: Article

References (24)

1. Badano J.L., Mitsuma N., Beales P.L., and Katsanis N. The ciliopathies: An emerging class of human genetic disorders. Annu. Rev. Genomics Hum. Genet. 7 (2006) 125-148
2. Lehman J.M., Michaud E.J., Schoeb T.R., Aydin-Son Y., Miller M., and Yoder B.K. The Oak Ridge Polycystic Kidney mouse: Modeling ciliopathies of mice and men. Dev. Dyn. 237 (2008) 1960-1971
3. Konstantinidou A.E., Fryssira H., Sifakis S., Karadimas C., Kaminopetros P., Agrogiannis G., Velonis S., Nikkels P.G., and Patsouris E. Cranioectodermal dysplasia: A probable ciliopathy. Am. J. Med. Genet. A. 149A (2009) 2206-2211
4. Eke T., Woodruff G., and Young I.D. A new oculorenal syndrome: Retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia. Br. J. Ophthalmol. 80 (1996) 490-491
5. 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. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat. Genet. 39 (2007) 727-729
6. Dagoneau N., Goulet M., Geneviève D., Sznajer Y., Martinovic J., Smithson S., Huber C., Baujat G., Flori E., Tecco L., et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am. J. Hum. Genet. 84 (2009) 706-711
7. Merrill A.E., Merriman B., Farrington-Rock C., Camacho N., Sebald E.T., Funari V.A., Schibler M.J., Firestein M.H., Cohn Z.A., Priore M.A., et al. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am. J. Hum. Genet. 84 (2009) 542-549
8. Matsuzaki H., Loi H., Dong S., Tsai Y.Y., Fang J., Law J., Di X., Liu W.M., Yang G., Liu G., et al. Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res. 14 (2004) 414-425
9. Abecasis G.R., Cherny S.S., Cookson W.O., and Cardon L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30 (2002) 97-101
10. Garshasbi M., Motazacker M.M., Kahrizi K., Behjati F., Abedini S.S., Nieh S.E., Firouzabadi S.G., Becker C., Rüschendorf F., Nürnberg P., et al. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum. Genet. 118 (2006) 708-715
11. Cdc4 ubiquitin ligase. Cell 112 (2003) 243-256
12. Tsao C.C., and Gorovsky M.A. Tetrahymena IFT122A is not essential for cilia assembly but plays a role in returning IFT proteins from the ciliary tip to the cell body. J. Cell Sci. 121 (2008) 428-436
13. Pedersen L.B., and Rosenbaum J.L. Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling. Curr. Top. Dev. Biol. 85 (2008) 23-61
14. Fry A.E., Klingenberg C., Matthes J., Heimdal K., Hennekam R.C.M., and Pilz D.T. Connective tissue involvement in two patients with features of cranioectodermal dysplasia. Am. J. Med. Genet. 149A (2009) 2212-2215
15. Zaffanello M., Diomedi-Camassei F., Melzi M.L., Torre G., Callea F., and Emma F. Sensenbrenner syndrome: A new member of the hepatorenal fibrocystic family. Am. J. Med. Genet. 140A (2006) 2336-2340
16. Westerfield M. The Zebrafish Book - A Guide for the Laboratory Use of Zebrafish (Danio rerio) (1995), University of Oregon Press, Eugene, Oregon
17. Coutelle O., Blagden C.S., Hampson R., Halai C., Rigby P.W., and Hughes S.M. Hedgehog signalling is required for maintenance of myf5 and myoD expression and timely terminal differentiation in zebrafish adaxial myogenesis. Dev. Biol. 236 (2001) 136-150
18. Tobin J.L., and Beales P.L. Restoration of renal function in zebrafish models of ciliopathies. Pediatr. Nephrol. 23 (2008) 2095-2099
19. Gerdes J.M., Liu Y., Zaghloul N.A., Leitch C.C., Lawson S.S., Kato M., Beachy P.A., Beales P.L., DeMartino G.N., Fisher S., et al. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat. Genet. 39 (2007) 1350-1360
20. Oishi I., Kawakami Y., Raya A., Callol-Massot C., and Izpisúa Belmonte J.C. Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya. Nat. Genet. 38 (2006) 1316-1322
21. Niedermaier M., Schwabe G.C., Fees S., Helmrich A., Brieske N., Seemann P., Hecht J., Seitz V., Stricker S., Leschik G., et al. An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. J. Clin. Invest. 115 (2005) 900-909
22. Eggenschwiler J.T., and Anderson K.V. Cilia and developmental signaling. Annu. Rev. Cell Dev. Biol. 23 (2007) 345-373
23. Cortellino S., Wang C., Wang B., Bassi M.R., Caretti E., Champeval D., Calmont A., Jarnik M., Burch J., Zaret K.S., et al. Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4. Dev. Biol. 325 (2009) 225-237
24. Tran P.V., Haycraft C.J., Besschetnova T.Y., Turbe-Doan A., Stottmann R.W., Herron B.J., Chesebro A.L., Qiu H., Scherz P.J., Shah J.V., et al. THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. Nat. Genet. 40 (2008) 403-410