Ciliopathies: The central role of cilia in a spectrum of pediatric disorders

Journal of Pediatrics

Volumn 160, Issue 3, 2012, Pages 366-371

  Ferkol, Thomas W ^a,c   Leigh, Margaret W ^b  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c Mailbox 8116   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE;

ARTICLE; BRONCHITIS; CELL MOTILITY; CHLAMYDOMONAS REINHARDTII; CILIARY DYSKINESIA; CLINICAL FEATURE; HAEMOPHILUS INFLUENZAE; HUMAN; NONHUMAN; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; STAPHYLOCOCCUS AUREUS; STREPTOCOCCUS PNEUMONIAE; CHILD; EUKARYOTIC FLAGELLUM; FEMALE; GENETICS; INFERTILITY; KARTAGENER SYNDROME; KIDNEY POLYCYSTIC DISEASE; MALE; MULTIPLE MALFORMATION SYNDROME; PATHOPHYSIOLOGY; PHYSIOLOGY; RESPIRATORY TRACT DISEASE; RETINITIS PIGMENTOSA; REVIEW; SYNDROME; ULTRASTRUCTURE;

ABNORMALITIES, MULTIPLE; CHILD; CILIA; FEMALE; HUMANS; INFERTILITY; KARTAGENER SYNDROME; MALE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; RESPIRATORY TRACT DISEASES; RETINITIS PIGMENTOSA; SYNDROME;

EID: 84858840334     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.11.024     Document Type: Article

References (47)

1. Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, et al. Clinical and genetic aspects of primary ciliary dyskinesia and Kartagener syndrome. Genet Med 2009;11:473-87.
2. 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;151:263-80.
3. Satir P, Pedersen LB, Christensen ST. The primary cilium at a glance. J Cell Sci 2010;123:499-503.
4. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Ann Rev Genomics Hum Genet 2006;7:125-48. (Pubitemid 44627925)
5. Tobin JL, Beales PL. The nonmotile ciliopathies. Genet Med 2009;11: 386-402.
6. Satir P, Christensen ST. Overview of structure and function of mammalian cilia. Ann Rev Physiol 2007;69:377-400. (Pubitemid 46457649)
7. Shah AS, Ben-Shahar Y, Moninger TO, Kline JN, Welsh MJ. Motile cilia of human airway epithelia are chemosensory. Science 2009;325:1131-4.
8. Bloodgood RA. Sensory reception is an attribute of both primary cilia and motile cilia. J Cell Sci 2010;123:505-9.
9. Hoyer-Fender S. Centriole maturation and transformation to basal body. Semin Cell Dev Biol 2010;21:142-7.
10. Pedersen LB, Rosenbaum JL. Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling. Curr Top Dev Biol 2008;85:23-61.
11. Sanderson MJ, Chow I, Dirksen ER. Intercellular communication between ciliated cells in culture. Am J Physiol 1988;254:C63-74.
12. Basu B, Brueckner M. Cilia multifunctional organelles at the center of vertebrate left-right asymmetry. Curr Top Dev Biol 2008;85:151-74.
13. Knowles MR, Boucher RC. Mucus clearance as a primary innate defense mechanism for mammalian airways. J Clin Invest 2002;109:571-7. (Pubitemid 34204834)
14. Afzelius BA. A human syndrome caused by immotile cilia. Science 1976; 193:317-9.
15. Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, et al. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med 2006;174:858-66. (Pubitemid 44564785)
16. Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 2006;174: 120-6. (Pubitemid 44015384)
17. Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat 2008;29:289-98. (Pubitemid 351240602)
18. Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004;169:459-67. (Pubitemid 38187117)
19. Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A. Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr 2002;91: 667-9. (Pubitemid 34779328)
20. Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007;115:2814-21. (Pubitemid 46869667)
21. Ferkol T, Mitchison H, O'Callaghan C, Leigh M, Carson J, Lie H, et al. Current issues in the basic mechanisms, pathophysiology, diagnosis, and management of primary ciliary dyskinesia. Eur Respir Monogr 2006;37:291-313.
22. Wessels MW, den Hollander NS, Willems PJ. Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. Prenat Diagn 2003;23:239-42. (Pubitemid 36323686)
23. Gerdes GM, Davis EE, Katsanis N. The vertebrate primary cilium in development, homeostasis, and disease. Cell 2009;137:132-45.
24. Hildebrandt F, Otto E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 2005;6:928-40. (Pubitemid 41778699)
25. Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet 2009;151:296-306.
26. Yoder BK. Role of primary cilia in the pathogenesis of polycystic kidney disease. J Am Soc Nephrol 2007;18:1381-8. (Pubitemid 46717504)
27. Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, et al. Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol 2010;5:972-8.
28. Wang S, Luo Y, Wilson PD, Witman GB, Zhou J. The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. J Am Soc Nephrol 2004;15:592-602. (Pubitemid 38294789)
29. Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 2009;20:23-35.
30. Liu Q, Zhang Q, Pierce E. Photoreceptor sensory cilia and inherited retinal degeneration. Adv Exp Med Biol 2010;664:223-32.
31. Nigg EA, Raff JW. Centrioles, centrosomes, and cilia in health and disease. Cell 2009;139:663-78.
32. Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol 2007;22:926-36. (Pubitemid 46881909)
33. Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 2009;119:428-37.
34. Lee JE, Gleeson JG. Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol 2011;24:98-105.
35. Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet 2007; 16:173-86. (Pubitemid 46179000)
36. Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol 2009;16:143-54.
37. Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290 base. Hum Mutat 2010;31:1097-108.
38. Hearn T, Spalluto C, Phillips VJ, Renforth GL, Copin N, Hanley NA, et al. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 2005;54:1581-7. (Pubitemid 40586693)
39. Singla V, Romaguera-Ros M, Garcia-Verdugo JM, Reiter JF. Ofd1, a human disease gene, regulates the length and distal structure of centrioles. Dev Cell 2010;18:410-24.
40. Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, et al. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nature Genet 2006;38:112-7. (Pubitemid 43011891)
41. 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;151: 341-51.
42. Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet 2007;39:727-9. (Pubitemid 46848589)
43. Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, et al. Cranioectodermal dysplasia: a probable ciliopathy. Am J Med Genet 2009;149:2206-11.
44. Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, et al. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet 2011;88: 508-15.
45. Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, et al. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 2006;120:171-8. (Pubitemid 44204005)
46. Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, et al. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet 2006;43:326-33.
47. 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;133:1181-8. (Pubitemid 351685524)