Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

European Respiratory Journal

Volumn 44, Issue 6, 2014, Pages 1579-1588

  Raidt, Johanna ^a   Wallmeier, Julia ^a   Hjeij, Rim ^a   Onnebrink, Jörg Große ^a   Pennekamp, Petra ^a   Loges, Niki T ^a   Olbrich, Heike ^a   Häffner, Karsten ^b   Dougherty, Gerard W ^a   Omran, Heymut ^a   Werner, Claudius ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARMC4 GENE; ARTICLE; CCDC103 GENE; CCDC164 GENE; CCDC39 GENE; CCDC40 GENE; CILIARY BEAT FREQUENCY; CILIARY BEAT PATTERN; CILIARY DYSKINESIA; CILIARY MOTILITY; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; CYTOKINE PRODUCTION; DISEASE CLASSIFICATION; DNAH11 GENE; DNAH5 GENE; DNAI1 GENE; DNAI2 GENE; DYX1C1 GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HIGH SPEED VIDEO MICROSCOPY ANALYSIS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYDIN GENE; KTUDNAAF2 GENE; LRRC50DNAAF1 GENE; LRRC6 GENE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; RESPIRATORY TRACT PARAMETERS; RSPH1 GENE; RSPH4A GENE; VIDEO MICROSCOPY; ZMYND10 GENE; EUKARYOTIC FLAGELLUM; GENE FREQUENCY; GENETICS; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; KARTAGENER SYNDROME; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOLOGY;

CILIA; GENE FREQUENCY; GENETIC VARIATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; KARTAGENER SYNDROME; MICROSCOPY, VIDEO; MUTATION; PHENOTYPE;

EID: 84916235760     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00052014     Document Type: Article

References (39)

1. Knowles MR, Daniels LA, Davis SD, et al. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med 2013; 188: 913-922.
2. Kuehni CE, Frischer T, Strippoli M-PF, et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J 2010; 36: 1248-1258.
3. Barbato A, Frischer T, Kuehni CE, et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 2009; 34: 1264-1276.
4. Leigh MW, Hazucha MJ, Chawla KK, et al. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc 2013; 10: 574-581.
5. Thomas B, Rutman A, O'Callaghan C. Disrupted ciliated epithelium shows slower ciliary beat frequency and increased dyskinesia. Eur Respir J 2009; 34: 401-404.
6. Hjeij R, Lindstrand A, Francis R, et al. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 2013; 93: 357-367.
7. Panizzi JR, Becker-Heck A, Castleman VH, et al. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet 2012; 44: 714-719.
8. Schwabe GC, Hoffmann AK, Loges NT, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat 2008; 29: 289-298.
9. Tarkar A, Loges NT, Slagle CE, et al. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 2013; 45: 995-1003.
10. Zariwala Ma, Gee HY, Kurkowiak M, et al. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet 2013; 93: 336-345.
11. Knowles MR, Ostrowski LE, Loges NT, et al. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet 2013; 93: 711-720.
12. Austin-Tse C, Halbritter J, Zariwala MA, et al. Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia. Am J Hum Genet 2013; 93: 672-686.
13. Becker-Heck A, Zohn IE, Okabe N, et al. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet 2011; 43: 79-84.
14. Merveille AC, Davis EE, Becker-Heck A, et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 2011; 43: 72-78.
15. Wirschell M, Olbrich H, Werner C, et al. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet 2013; 45: 262-268.
16. Horani A, Brody SL, Ferkol TW, et al. CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLoS One 2013; 8: e72299.
17. Olbrich H, Schmidts M, Werner C, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet 2012; 91: 672-684.
18. Castleman VH, Romio L, Chodhari R, et al. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet 2009; 84: 197-209.
19. Kott E, Legendre M, Copin B, et al. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet 2013; 93: 561-570.
20. Ben Khelifa M, Coutton C, Zouari R, et al. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet 2014; 94: 95-104.
21. Sisson JH, Stoner JA, Ammons BA, et al. All-digital image capture and whole-field analysis of ciliary beat frequency. J Microsc 2003; 211: 103-111.
22. O'Callaghan C, Rutman A, Williams GM, et al. Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required. Eur Respir J 2011; 38: 603-607.
23. Hornef N, Olbrich H, Horvath J, 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: 120-126.
24. Olbrich H, Häffner K, Kispert A, et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 2002; 30: 143-144.
25. Zariwala MA, Leigh MW, Ceppa F, 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: 858-866.
26. Loges NT, Olbrich H, Fenske L, et al. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 2008; 83: 547-558.
27. Knowles MR, Leigh MW, Carson JL, et al. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 2012; 67: 433-441.
28. Omran H, Kobayashi D, Olbrich H, et al. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature 2008; 456: 611-616.
29. Loges NT, Olbrich H, Becker-Heck A, et al. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet 2009; 85: 883-889.
30. Shoemark A, Dixon M, Corrin B, et al. Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. J Clin Pathol 2012; 65: 267-271.
31. Smith CM, Hirst RA, Bankart MJ, et al. Cooling of cilia allows functional analysis of the beat pattern for diagnostic testing. Chest 2011; 140: 186-190.
32. Jackson CL, Goggin PM, Lucas JS. Ciliary beat pattern analysis below 37uC may increase risk of primary ciliary dyskinesia misdiagnosis. Chest 2012; 142: 543-544.
33. Keck T, Leiacker R, Riechelmann H, et al. Temperature profile in the nasal cavity. Laryngoscope 2000; 110: 651-654.
34. Dimova S, Maes F, Brewster ME, et al. High-speed digital imaging method for ciliary beat frequency measurement. J Pharm Pharmacol 2005; 57: 521-526.
35. Chilvers MA, Rutman A, O'Callaghan C. Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults. Thorax 2003; 58: 333-338.
36. Papon JF, Bassinet L, Cariou-Patron G, et al. Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study. Orphanet J Rare Dis 2012; 7: 78.
37. Schipor I, Palmer JN, Cohen AS, et al. Quantification of ciliary beat frequency in sinonasal epithelial cells using differential interference contrast microscopy and high-speed digital video imaging. Am J Rhinol 2006; 20: 124-127.
38. Lucas JS, Adam EC, Goggin PM, et al. Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. Hum Mutat 2012; 33: 495-503.
39. Stannard W, Rutman A, Wallis C, et al. Central microtubular agenesis causing primary ciliary dyskinesia. Am J Respir Crit Care Med 2004; 169: 634-637.