Spectrum of clinical diseases caused by disorders of primary cilia

Proceedings of the American Thoracic Society

Volumn 8, Issue 5, 2011, Pages 444-450

  Ware, Stephanie M ^a   Gunay Aygun, Meral ^b   Hildebrandt, Friedhelm ^c  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Ciliopathy; Cyst; Heterotaxy; Nephronophthisis; Primary cilia

Indexed keywords

ALSTROM SYNDROME; BARDET BIEDL SYNDROME; CENTROSOME; CHONDRODYSPLASIA; CILIARY DYSKINESIA; CILIARY MOTILITY; CONFERENCE PAPER; DYSOSTOSIS; ECTODERMAL DYSPLASIA; ELLIS VAN CREVELD SYNDROME; GENE MUTATION; GENETIC HETEROGENEITY; HETEROTAXY SYNDROME; HUMAN; IMMOTILE CILIA SYNDROME; JOUBERT SYNDROME; KIDNEY POLYCYSTIC DISEASE; KINETOSOME; LEBER CONGENITAL AMAUROSIS; MCKUSICK KAUFMAN SYNDROME; MECKEL SYNDROME; NEPHRONOPHTHISIS; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE;

CEREBELLAR DISEASES; CILIARY MOTILITY DISORDERS; GENOME-WIDE ASSOCIATION STUDY; HETEROTAXY SYNDROME; HUMANS; KIDNEY DISEASES; LIVER DISEASES;

EID: 80053004806     PISSN: 15463222     EISSN: 19435665     Source Type: Journal    
DOI: 10.1513/pats.201103-025SD     Document Type: Conference Paper

References (60)

1. Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 2007;8:880-893. (Pubitemid 47622564)
2. Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet 2007;28:113-125. (Pubitemid 47493768)
3. Christensen ST, Pedersen LB, Schneider L, Satir P. Sensory cilia and integration of signal transduction in human health and disease. Traffic 2007;8:97-109. (Pubitemid 46099997)
4. Cardenas-Rodriguez M, Badano JL. Ciliary biology: understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet 2009;151C:263-280.
5. Singla V, Reiter JF. The primary cilium as the cell's antenna: signaling at a sensory organelle. Science 2006;313:629-633. (Pubitemid 44201133)
6. Mok CA, Heon E, Zhen M. Ciliary dysfunction and obesity. Clin Genet 2010;77:18-27.
7. Hamada H. Breakthroughs and future challenges in left-right patterning. Dev Growth Differ 2008;50:S71-S78. (Pubitemid 351725076)
8. Levin M. Left-right asymmetry in embryonic development: a comprehensive review. Mech Dev 2005;122:3-25. (Pubitemid 39593742)
9. Zhu L, Belmont JW, Ware SM. Genetics of human heterotaxias. Eur J Hum Genet 2006;14:17-25. (Pubitemid 43019079)
10. Ticho BS, Goldstein AM, Van Praagh R. Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures. Am J Cardiol 2000;85:729-734. (Pubitemid 30133394)
11. Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. Identification and functional analysis of zic3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 2004;74:93-105. (Pubitemid 38085241)
12. Kuehl KS, Loffredo C. Risk factors for heart disease associated with abnormal sidedness. Teratology 2002;66:242-248. (Pubitemid 35266240)
13. Sutherland MJ, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet 2009;151C:307-317.
14. Purandare SM, Ware SM, Kwan KM, Gebbia M, Bassi MT, Deng JM, Vogel H, Behringer RR, Belmont JW, Casey B. A complex syndrome of left-right axis, central nervous system and axial skeleton defects in zic3 mutant mice. Development 2002;129:2293-2302. (Pubitemid 34874239)
15. Ware SM, Harutyunyan KG, Belmont JW. Heart defects in x-linked heterotaxy: evidence for a genetic interaction of zic3 with the nodal signaling pathway. Dev Dyn 2006;235:1631-1637. (Pubitemid 43787965)
16. Ware SM, Harutyunyan KG, Belmont JW. Zic3 is critical for early embryonic patterning during gastrulation. Dev Dyn 2006;235:776-785.
17. Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, et al. Identification and functional characterization of nodal rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet 2009;18:861-871.
18. Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M. Cfc1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 2002;70:776-780. (Pubitemid 34177932)
19. Roessler E, Ouspenskaia MV, Karkera JD, Velez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, et al. Reduced nodal signaling strength via mutation of several pathway members including foxh1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet 2008;83:18-29.
20. Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet 2009;151C:296-306.
21. Gunay-Aygun M, Heller T, Gahl WA. Congenital hepatic fibrosis overview. In: GeneReviews at GeneTests: Medical genetics information resource (database online) [accessed March 10, 2011]. Available from: http://wwwgenetestsorg. University of Washington, Seattle, WA; 2008.
22. Desmet VJ. Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology 1992;16:1069-1083.
23. Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (omim 213300). Eur J Hum Genet 2007;15:511-521. (Pubitemid 46681452)
24. Beales RA. Bardet-biedl syndrome [accessed March 10, 2011]. GeneReviews; 2007. Available from: wwwgenereviewsorg
25. Alexiev BA, Lin X, Sun CC, Brenner DS. Meckel-gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med 2006;130:1236-1238. (Pubitemid 44168801)
26. Chetty-John S, Piwnica-Worms K, Bryant J, Bernardini I, Fischer RE, Heller T, Gahl WA, Gunay-Aygun M. Fibrocystic disease of liver and pancreas; under-recognized features of the x-linked ciliopathy oralfacial-digital syndrome type 1 (ofd i). Am J Med Genet A 2010;152A: 2640-2645.
27. Tuysuz B, Baris S, Aksoy F, Madazli R, Ungur S, Sever L. Clinical variability of asphyxiating thoracic dystrophy (jeune) syndrome: evaluation and classification of 13 patients. Am J Med Genet A 2009;149A:1727-1733.
28. Ruiz-Perez VL, Goodship JA. Ellis-van creveld syndrome and weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet 2009;151C:341-351.
29. Zaffanello M, Diomedi-Camassei F, Melzi ML, Torre G, Callea F, Emma F. Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family. Am J Med Genet A 2006;140:2336-2340. (Pubitemid 44684961)
30. Tobin JL, Beales PL. The nonmotile ciliopathies. Genet Med 2009;11:386-402.
31. Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, et al. Mks3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and joubert syndrome. J Pediatr 2009;155:386-392, e381.
32. Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M. A novel gene encoding an sh3 domain protein is mutated in nephronophthisis type 1. Nat Genet 1997;17:149-153. (Pubitemid 27425946)
33. Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, et al. Mutations in invs encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 2003;34:413-420. (Pubitemid 36935334)
34. Watnick T, Germino G. From cilia to cyst. Nat Genet 2003;34:355-356. (Pubitemid 36935324)
35. Hildebrandt F, Otto E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 2005;6:928-940.
36. Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, et al. Mutations in a novel gene, nphp3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet 2003;34:455-459.
37. Gattone VH II, Wang X, Harris PC, Torres VE. Inhibition of renal cystic disease development and progression by a vasopressin v2 receptor antagonist. Nat Med 2003;9:1323-1326. (Pubitemid 37279858)
38. Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, et al. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet 2002;71:1161-1167. (Pubitemid 35305233)
39. Wolf MT, Lee J, Panther F, Otto EA, Guan KL, Hildebrandt F. Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in caenorhabditis elegans. J Am Soc Nephrol 2005;16:676-687. (Pubitemid 41725104)
40. Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, et al. Nephrocystin-5, a ciliary iq domain protein, is mutated in senior-loken syndrome and interacts with rpgr and calmodulin. Nat Genet 2005;37:282-288. (Pubitemid 41716255)
41. Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, et al. Disruption of bardet-biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet 2005;37:1135-1140. (Pubitemid 41486669)
42. Simons M, Gloy J, Ganner A, Bullerkotte A, Bashkurov M, Kronig C, Schermer B, Benzing T, Cabello OA, Jenny A, et al. Inversin, the gene product mutated in nephronophthisis type ii, functions as a molecular switch between wnt signaling pathways. Nat Genet 2005;37:537-543. (Pubitemid 40617284)
43. Fischer E, Legue E, Doyen A, Nato F, Nicolas JF, Torres V, Yaniv M, Pontoglio M. Defective planar cell polarity in polycystic kidney disease. Nat Genet 2006;38:21-23. (Pubitemid 43011877)
44. Huangfu D, Liu A, Rakeman AS, Murcia NS, Niswander L, Anderson KV. Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature 2003;426:83-87. (Pubitemid 37432545)
45. Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, et al. The centrosomal protein nephrocystin-6 is mutated in joubert syndrome and activates transcription factor atf4. Nat Genet 2006;38:674-681. (Pubitemid 43927310)
46. Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, et al. In-frame deletion in a novel centrosomal/ciliary protein cep290/nphp6 perturbs its interaction with rpgr and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 2006;15:1847-1857. (Pubitemid 43821775)
47. den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, et al. Mutations in the cep290 (nphp6) gene are a frequent cause of leber congenital amaurosis. Am J Hum Genet 2006;79:556-561. (Pubitemid 44384265)
48. Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, et al. Loss of glis2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet 2007;39:1018-1024. (Pubitemid 47185176)
49. Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, et al. The ciliary gene rpgrip1l is mutated in cerebello-oculo-renal syndrome (joubert syndrome type b) and meckel syndrome. Nat Genet 2007;39:875-881. (Pubitemid 47014487)
50. Otto EA, Trapp ML, Schultheiss UT, Helou J, Quarmby LM, Hildebrandt F. Nek8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J Am Soc Nephrol 2008;19:587-592. (Pubitemid 351355402)
51. Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, et al. Ttc21b contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 2011;43:189-196.
52. Shah AS, Ben-Shahar Y, Moninger TO, Kline JN, Welsh MJ. Motile cilia of human airway epithelia are chemosensory. Science 2009;325:1131-1134.
53. Bloodgood RA. Sensory reception is an attribute of both primary cilia and motile cilia. J Cell Sci 2010;123:505-509.
54. Papon JF, Perrault I, Coste A, Louis B, Gerard X, Hanein S, Fares-Taie L, Gerber S, Defoort-Dhellemmes S, Vojtek AM, et al. Abnormal respiratory cilia in non-syndromic leber congenital amaurosis with cep290 mutations. J Med Genet 2010;47:829-834.
55. Driscoll JA, Bhalla S, Liapis H, Ibricevic A, Brody SL. Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis. Chest 2008;133:1181-1188. (Pubitemid 351685524)
56. Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007;115:2814-2821. (Pubitemid 46869667)
57. Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci USA 2011;108:2915-2920.
58. Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, Van Der Kraak L, Allen SJ, Beales PL, Katsanis N, et al. Mutation analysis in bardet-biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet 2011;129:79-90.
59. Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet 2011;48:105-116.
60. Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, et al. Candidate exome capture identifies mutation of sdccag8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010;42:840-850.