Primary ciliary dyskinesia and the heart cilia breaking symmetry

Chest

Volumn 146, Issue 5, 2014, Pages 1136-1138

  Kennedy, Marcus P ^a   Plant, Barry J ^a  

^a Department of Medicine National University of Ireland Cork   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

BRONCHIECTASIS; CILIARY DYSKINESIA; CILIARY MOTILITY; CONGENITAL HEART DISEASE; DIGESTIVE SYSTEM MALFORMATION; DISEASE ASSOCIATION; EDITORIAL; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; HETEROTAXY SYNDROME; HUMAN; INCIDENCE; INFECTION RISK; KARTAGENER SYNDROME; NONHUMAN; PHENOTYPE; SITUS AMBIGUUS; SITUS INVERSUS; SITUS SOLITUS; SYMPTOMATOLOGY; THORAX RADIOGRAPHY; EUKARYOTIC FLAGELLUM; FEMALE; MALE; MUTATION; ULTRASTRUCTURE;

DNA;

CILIA; DNA; FEMALE; HUMANS; KARTAGENER SYNDROME; MALE; MUTATION;

EID: 84910002736     PISSN: 00123692     EISSN: 19313543     Source Type: Journal    
DOI: 10.1378/chest.14-0722     Document Type: Editorial

References (15)

1. Shapiro AJ, Davis SD, Ferkol T, et al;on behalf of the Genetic Disorders of Mucociliary Clearance Consortium. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest. 2014;146(5):1176-1186.
2. Kennedy MP, Omran H, Leigh MW, et al. Congenital heart dis ease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007;115(22):2814-2821.
3. Nakhleh N, Francis R, Giese RA, et al. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation. 2012;125(18):2232-2242.
4. Brueckner M. Impact of genetic diagnosis on clinical management of patients with congenital heart disease: cilia point the way. Circulation. 2012;125(18):2178-2180.
5. Lin AE, Ticho BS, Houde K, Westgate MN, Holmes LB. Heterotaxy: associated conditions and hospital-based prevalence in newborns. Genet Med. 2000;2(3):157-172.
6. Torgersen J. Situs inversus, asymmetry, and twinning. Am J Hum Genet. 1950;2(4):361-370.
7. Katsuhara K, Kawamoto S, Wakabayashi T, Belsky JL. Situs inversus totalis and Kartagener's syndrome in a Japanese population. Chest. 1972;61(1):56-61.
8. Zhu L, Belmont JW, Ware SM. Genetics of human heterotaxias. Eur J Hum Genet. 2006;14(1):17-25.
9. 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):913-922.
10. Strippoli MP, Frischer T, Barbato A, et al;ERS Task Force on Primary Ciliary Dyskinesia in Children. Management of primary ciliary dyskinesia in European children: recommendations and clinical practice. Eur Respir J. 2012;39(6):1482-1491.
11. 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(6):1264-1276.
12. Supp DM, Witte DP, Potter SS, Brueckner M. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice. Nature. 1997;389(6654):963-966.
13. Ibañez-Tallon I, Gorokhova S, Heintz N. Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Hum Mol Genet. 2002;11(6):715-721.
14. Ibañez-Tallon I, Pagenstecher A, Fliegauf M, et al. Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Hum Mol Genet. 2004;13(18):2133-2141.
15. Tan SY, Rosenthal J, Zhao XQ, et al. Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. J Clin Invest. 2007;117(12):3742-3752.