Diagnostics of primary ciliary dyskinesia;Diagnostik der primären ziliären Dyskinesie

Pneumologe

Volumn 4, Issue 4, 2007, Pages 267-275

  Omran, Heymut ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Cilia; Dynein proteins; Dyskinesia of cilia; Primary ciliary dyskinesia; Recurrent infections

Indexed keywords

EID: 34547121713     PISSN: 16135636     EISSN: 16136055     Source Type: Journal    
DOI: 10.1007/s10405-007-0152-1     Document Type: Article

References (32)

1. Afzelius BA (1976) A human syndrome caused by immotile cilia. Science 193: 317-319
2. Afzelius BA, Mossberg B (1995) Immotile cilia syndrome (primary ciliary dyskinesia) including Kartagener syndrome. In Scriver CR, Beaudet AL, Sly WS (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3943-3954
3. Bartoloni L, Blouin JL, Pan Y et al. (2002) Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Nat Acad Sci USA 99: 10282-10286
4. Blouin JL, Meeks M, Radhakrishna U et al. (2000) Primary ciliary dyskinesia: A genome-wide linkage analysis reveals extensive locus heterogeneity. Eur J Human Genetics 8: 109-118
5. Budny B, Chen W, Omran H et al. (2006) A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 120: 171-178
6. Bush A, Cole P, Hariri M et al. (1998) Primary ciliary dyskinesia: diagnosis and standards of care. Eur Respir J 12: 982-988
7. Csoma Z, Bush A, Wilson NM et al. (2003) Nitric oxide metabolites are not reduced in exhaled breath condensate of patients with primary ciliary dyskinesia. Chest 124: 633-638
8. Duriez B, Duquesnoy P, Escudier E et al. (2007) A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Nati Acad Sci USA, published online Feb 20
9. Dry KL, Manson FD, Lennon A et al. (1999) Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). Human Mutation 13: 141-145
10. El Zein L, Omran H, Bouvagnet P (2003) Lateralization defects and ciliary dyskinesia: Lessons from algae. Trends Genetics 19: 162-167
11. Fliegauf M, Olbrich H, Horvath J et al. (2005) Mis-localization of DNAH5 and DNAH9 in respiratory cells from primary ciliary dyskinesia patients. Am J Respir Crit Care Med 171: 1343-1349
12. Greenstone MA, Stanley P, Cole P, Mackay I (1985) Upper airway manifestations of primary ciliary dyskinesia. J Laryng Otol 99: 985-991
13. Guichard C, Harricane MC, Lafitte JJ et al. (2001) Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Human Genetics 68: 1030-1035
14. Hadfield PJ, Rowe-Jones JM, Bush A, Mackay IS (1997) Treatment of otitis media with effusion in children with primary ciliary dyskinesia. Clin Otolaryngol 22: 302-306
15. Hornef N, Olbrich H, Horvath J et al. (2006) DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 174: 120-126
16. Hou X, Mrug M, Yoder BK et al. (2002) Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. J Clin Investigation 109: 533-540
17. Iannaccone A, Breuer DK, Wang XF et al. (2003) Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J Medical Genetics 40: E118
18. Ibanez-Tallon I, Heintz N, Omran H (2003) To beat or not to beat: Roles of cilia in development and disease. Human Molecular Genetics 12:R27-35
19. Ibanez-Tallon I, Pagenstecher A, Fliegauf M et al. (2004) Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Human Molecular Genetics 13: 2133-41
20. Jeganathan D, Chodhari R, Meeks M et al. (2004) Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. J Medical Genetics 41:233-40
21. Karadag B, James AJ, Gultekin E et al. (1999) Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. Eur Respir J 13: 1402-1405
22. Kennedy MP, Omran H, Leigh MW et al. (2007) Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation (in press)
23. Meeks M, Walne A, Spiden S et al. (2000) A locus for primary ciliary dyskinesia maps to chromosome 19q. J Medical Genetics 37: 241-244
24. Nonaka S, Tanaka Y, Okada Y et al. (1998) Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 95: 829-837
25. Olbrich H, Häffner K, Kispert A et al. (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genetics 30: 143-144
26. Olbrich H, Horvath J, Fekete A et al. (2006) Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia. Pediatric Res 59: 418-422
27. Omran H, Häffner K, Völkel A et al. (2000) Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. Am J Respir Cell Molecular Biol 23: 696-702
28. Pedersen M, Stafanger G (1983) Bronchopulmonary symptoms in primary ciliary dyskinesia. A clinical study of 27 patients. Eur J Respir Dis 127 [Suppl]: 118-128
29. Pennarun G, Escudier E, Chapelin C et al. (1999) Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Human Genetics 65: 1508-1519
30. Van Dorp DB, Wright AF, Carothers AD et al. (1992) A family with RP3 type of X-linked retinitis pigmentosa: An association with ciliary abnormalities. Human Genetics 88: 331-334
31. Zariwala MA, Leigh MW, Ceppa F et al. (2006) Mutations of DNAI1 in primary ciliary dyskinesia: Evidence of founder effect in a common mutation. Am J Respir Crit Care Med 174: 858-866
32. Zito I, Downes SM, Patel RJ et al. (2003) RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Medical Genetics 40: 609-615