Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Kartagener M. Zur Pathogenese der Bronchiektasien: II. Mitteilung: Familiäres Vorkommen von Bronchiektasien. Beiträge zur Klinik der Tuberkulose und spezifischen Tuberkulose-Forschung. 1933;84:73–85.

Article  Google Scholar 

Lucas JS, Davis SD, Omran H, Shoemark A. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med. 2020;8(2):202–16.

Article  CAS  PubMed  Google Scholar 

Goutaki M, Meier AB, Halbeisen FS, Lucas JS, Dell SD, Maurer E, et al. Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J. 2016;48(4):1081–95.

Article  PubMed  Google Scholar 

Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, et al. Association of neonatal hospital length of stay with lung function in primary ciliary dyskinesia. Ann Am Thorac Soc. 2022;19(11):1865–70.

Article  PubMed  PubMed Central  Google Scholar 

Pifferi M, Bush A, Rizzo M, Tonacci A, Di Cicco M, Piras M, et al. Olfactory dysfunction is worse in primary ciliary dyskinesia compared with other causes of chronic sinusitis in children. Thorax. 2018;73(10):980–2.

Article  PubMed  Google Scholar 

Sironen A, Shoemark A, Patel M, Loebinger MR, Mitchison HM. Sperm defects in primary ciliary dyskinesia and related causes of male infertility. Cell Mol Life Sci. 2020;77:2029–48.

Article  CAS  PubMed  Google Scholar 

Turner JP, Corkey CW, Lee JV, Levison H, Sturgess J. Clinical expressions of immotile cilia syndrome. Pediatrics. 1981;67(6):805–10.

Article  CAS  PubMed  Google Scholar 

Halbeisen FS, Goutaki M, Spycher BD, Amirav I, Behan L, Boon M, et al. Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study. Eur Respir J. 2018;52(2).

Roehmel JF, Doerfler FJ, Koerner-Rettberg C, Brinkmann F, Schlegtendal A, Wetzke M, et al. Comparison of the lung clearance index in preschool children with primary ciliary dyskinesia and cystic fibrosis. Chest. 2022;162(3):534–42.

Article  PubMed  Google Scholar 

Hannah WB, Seifert BA, Truty R, Zariwala MA, Ameel K, Zhao Y, et al. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. Lancet Respir Med. 2022;10(5):459–68.

Article  PubMed  PubMed Central  Google Scholar 

Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, et al. Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects. Am J Hum Genet. 2017;100(1):160–8.

Article  CAS  PubMed  Google Scholar 

Satir P, Christensen ST. Structure and function of mammalian cilia. Histochem Cell Biol. 2008;129(6):687–93.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chilvers MA, Rutman A, O’Callaghan C. Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults. Thorax. 2003;58(4):333–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Davis SD, Rosenfeld M, Lee H-S, Ferkol TW, Sagel SD, Dell SD, et al. Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype. Am J Respir Crit Care Med. 2019;199(2):190–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shoemark A, Rubbo B, Legendre M, Fassad MR, Haarman EG, Best S, et al. Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia. Eur Respir J. 2021;58(2).

Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J, et al. High prevalence of CCDC103 p. His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax. 2018;73(2):157–66.

Article  PubMed  Google Scholar 

Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, Le Borgne P, et al. Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus. Am J Hum Genet. 2018;103(6):984–94.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med. 2014;189(6):707–17.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJ, et al. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. PLoS Genet. 2018;14(8):e1007602.

Article  PubMed  PubMed Central  Google Scholar 

Paff T, Onoufriadis A, Anthony D, Shoemark A, Micha D, Kuyt B, et al. Mutation in the CCDC114 gene causes primary ciliary dyskinesia with normal fertility in the isolated Volendam population. Tijdschrift Voor Kindergeneeskunde. 2013;81:92-.

Best S, Shoemark A, Rubbo B, Patel MP, Fassad MR, Dixon M, et al. Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax. 2019;74(2):203–5.

Article  PubMed  Google Scholar 

Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, et al. De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry. Am J Hum Genet. 2019;105(5):1030–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wallmeier J, Al-Mutairi DA, Chen C-T, Loges NT, Pennekamp P, Menchen T, et al. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Genet. 2014;46(6):646–51.

Article  CAS  PubMed  Google Scholar 

Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, et al. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Commun. 2014;5(1):4418.

Article  CAS  PubMed  Google Scholar 

Baz-Redón N, Rovira-Amigo S, Paramonov I, Castillo-Corullón S, Cols-Roig M, Antolín M, et al. Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia. Arch Bronconeumol (English Edition). 2021;57(3):186–94.

Article  Google Scholar 

Fassad MR, Patel MP, Shoemark A, Cullup T, Hayward J, Dixon M, et al. Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. J Med Genet. 2020;57(5):322–30.

Article  CAS  PubMed  Google Scholar 

Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS, Camps C, et al. Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis. Eur Respir J. 2022;60(5).

AoURP I. The “All of Us” research program. N Engl J Med. 2019;381(7):668–76.

Article  Google Scholar 

Postema MC, Carrion-Castillo A, Fisher SE, Vingerhoets G, Francks C. The genetics of situs inversus without primary ciliary dyskinesia. Sci Rep. 2020;10(1):3677.

Article  CAS  PubMed  PubMed Central  Google Scholar 

England N. National Genomic Test Directory. Testing criteria for rare and inherited disease. 2020.

Behan L, Dimitrov BD, Kuehni CE, Hogg C, Carroll M, Evans HJ, et al. PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia. Eur Respir J. 2016;47(4):1103–12.

Article  PubMed  PubMed Central  Google Scholar 

Shah A, Shoemark A, MacNeill SJ, Bhaludin B, Rogers A, Bilton D, et al. A longitudinal study characterising a large adult primary ciliary dyskinesia population. Eur Respir J. 2016;48(2):441–50.

Article  PubMed  Google Scholar 

Shoemark A, Polverino E, Blasi F, Ringshausen FC, De Soyza A, Vendrell M, et al. Primary ciliary dyskinesia in adults with bronchiectasis: data from the Embarc registry. Eur Respiratory Soc. 2018.

Walker WT, Jackson CL, Lackie PM, Hogg C, Lucas JS. Nitric oxide in primary ciliary dyskinesia. Eur Respir J. 2012;40(4):1024–32.

Article  CAS  PubMed  Google Scholar 

Beydon N, Kouis P, Marthin JK, Latzin P, Colas M, Davis SD, et al. Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard. Eur Respir J. 2023;61(4).

Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, et al. Accuracy of nasal nitric oxide measurement as a diagnostic test for primary ciliary dyskinesia. A systematic review and meta-analysis. Ann Am Thorac Soc. 2017;14(7):1184–96.

PubMed  PubMed Central  Google Scholar 

Rubbo B, Shoemark A, Jackson CL, Hirst R, Thompson J, Hayes J, et al. Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia. Chest. 2019;155(5):1008–17.

Article  PubMed  Google Scholar 

Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49(1).

Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, et al. Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society clinical practice guideline. Am J Respir Crit Care Med. 2018;197(12):e24–39.

Article  PubMed  PubMed Central  Google Scholar 

Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188(8):913–22.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, et al. Accuracy of immunofluorescence in the diagnosis of primary ciliary dyskinesia. Am J Respir Crit Care Med. 2017;196(1):94–101.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cindrić S, Dougherty GW, Olbrich H, Hjeij R, Loges NT, Amirav I, et al. SPEF2-and HYDIN-mutant cilia lack the central pair–associated protein SPEF2, aiding primary ciliary dyskinesia diagnostics. Am J Respir Cell Mol Biol. 2020;62(3):382–96.

Article  PubMed  Google Scholar 

Dougherty GW, Loges NT, Klinkenbusch JA, Olbrich H, Pennekamp P, Menchen T, et al. DNAH11 localization in the proximal region of respiratory cilia defines distinct outer dynein arm co

留言 (0)

沒有登入
gif