Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: Insights into situs ambiguus and heterotaxy

Chest

Volumn 146, Issue 5, 2014, Pages 1176-1186

  Shapiro, Adam J ^a,j   Davis, Stephanie D ^b   Ferkol, Thomas ^c   Dell, Sharon D ^d   Rosenfeld, Margaret ^e   Olivier, Kenneth N ^f   Sagel, Scott D ^g   Milla, Carlos ^h   Zariwala, Maimoona A ⁱ   Wolf, Whitney ⁱ   Carson, Johnny L ⁱ   Hazucha, Milan J ⁱ   Burns, Kimberlie ⁱ   Robinson, Blair ⁱ   Knowles, Michael R ⁱ   Leigh, Margaret W ⁱ  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b INDIANA UNIVERSITY   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF WASHINGTON   (United States)

^f NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^g Children's Hospital Colorado   (United States)

^h STANFORD UNIVERSITY   (United States)

ⁱ UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF NORTH CAROLINA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NITRIC OXIDE; DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CILIARY DYSKINESIA; CILIATE; CLINICAL FEATURE; CONTROLLED STUDY; DIGITAL CLUBBING; DISEASE CLASSIFICATION; ELECTRON MICROSCOPY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HEART DISEASE; HUMAN; HUMAN TISSUE; INFANT; LUNG MALFORMATION; MAJOR CLINICAL STUDY; MALE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NOSE OBSTRUCTION; PRESCHOOL CHILD; PREVALENCE; PROSPECTIVE STUDY; SCHOOL CHILD; SITUS AMBIGUUS; SITUS HETEROTAXY; SITUS INVERSUS TOTALIS; SITUS SOLITUS; SYMPTOMATOLOGY; BIOPSY; CLINICAL TRIAL; COMPUTER ASSISTED TOMOGRAPHY; DNA MUTATIONAL ANALYSIS; EUKARYOTIC FLAGELLUM; GENETICS; KARTAGENER SYNDROME; MIDDLE AGED; MULTICENTER STUDY; MUTATION; NEWBORN; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE; UNITED STATES; YOUNG ADULT;

ADOLESCENT; ADULT; BIOPSY; CHILD; CHILD, PRESCHOOL; CILIA; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KARTAGENER SYNDROME; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUTATION; PREVALENCE; PROSPECTIVE STUDIES; TOMOGRAPHY, X-RAY COMPUTED; UNITED STATES; YOUNG ADULT;

EID: 84910018969     PISSN: 00123692     EISSN: 19313543     Source Type: Journal    
DOI: 10.1378/chest.13-1704     Document Type: Article

References (35)

1. 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.
2. Torgersen J. Situs inversus, asymmetry, and twinning. Am J Hum Genet. 1950; 2( 4): 361-370.
3. Zariwala MA, Knowles MR, Leigh MW. Primary ciliary dyskinesia, In: Pagon RA, Bird TC, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2014. National Center for Biotechnology website. http://www.ncbi.nlm.nih.gov/books/NBK1122. Accessed January 1, 2013.
4. Tynan MJ, Becker AE, Macartney FJ, Jiménez MQ, Shinebourne EA, Anderson RH. Nomenclature and classifi cation of congenital heart disease. Br Heart J. 1979; 41( 5): 544-553.
5. Van Praagh R. Terminology of congenital heart disease. Glossary and commentary. Circulation. 1977; 56( 2): 139-143.
6. Evans WN. Thoracoabdominal situs: a practical approach accompanied by a short history of descriptive terms. Pediatr Cardiol. 2010; 31( 7): 1049-1051.
7. Jacobs JP, Anderson RH, Weinberg PM, et al. The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy. Cardiol Young. 2007; 17(suppl 2 ): 1-28.
8. Aylsworth AS. Clinical aspects of defects in the determination of laterality. Am J Med Genet. 2001; 101( 4): 345-355.
9. Zhu L, Belmont JW, Ware SM. Genetics of human heterotaxias. Eur J Hum Genet. 2006; 14( 1): 17-25.
10. Ware SM, Peng J, Zhu L, et al. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004; 74( 1): 93-105.
11. Tanaka Y, Okada Y, Hirokawa N. FGF-induced vesicular release of Sonic hedgehog and retinoic acid in left ward nodal flow is critical for left-right determination. Nature. 2005; 435( 7039): 172-177.
12. Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol. 2007; 8( 11): 880-893.
13. Nagao Y, Cheng J, Kamura K, et al. Dynein axonemal intermediate chain 2 is required for formation of the left-right body axis and kidney in medaka. Dev Biol. 2010; 347( 1): 53-61.
14. 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.
15. Kennedy MP, Omran H, Leigh MW, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007; 115( 22): 2814-2821.
16. Bush A. Congenital heart disease in primary ciliary dyskinesia. Pediatr Cardiol. 1998; 19( 2): 191.
17. Brueckner M. Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. Circulation. 2007; 115( 22): 2793-2795.
18. Botto LD, Lin AE, Riehle-Colarusso T, Malik S, Correa A; National Birth Defects Prevention Study. Seeking causes: classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res A Clin Mol Teratol. 2007; 79( 10): 714-727.
19. American Thoracic Society; European Respiratory Society. ATS/ERS recommendations for standardized procedures for the online and offl ine measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005. Am J Respir Crit Care Med. 2005; 171(8): 912-930.
20. 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( 6): 574-581.
21. Mateos-Corral D, Coombs R, Grasemann H, Ratjen F, Dell SD. Diagnostic value of nasal nitric oxide measured with nonvelum closure techniques for children with primary ciliary dyskinesia. J Pediatr. 2011; 159( 3): 420-424.
22. Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med. 2004; 169( 4): 459-467.
23. Karadag B, James AJ, Gültekin E, Wilson NM, Bush A. Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. Eur Respir J. 1999; 13( 6): 1402-1405.
24. Chawla KK, Shapiro A, Hazucha MJ, et al. Nasal nitric oxide during tidal breathing in children under 6 years of age [abstract]. Am J Respir Crit Care Med. 2009; 179(Meeting Abstracts): A3673.
25. 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.
26. Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child. 2007; 92( 12): 1136-1140.
27. Bush A, Hogg C. Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy. Expert Rev Respir Med. 2012;6( 6): 663-682.
28. 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.
29. Kuehl KS, Loffredo C. Risk factors for heart disease associated with abnormal sidedness. Teratology. 2002; 66( 5): 242-248.
30. Sutherland MJ, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009;151C( 4): 307-317.
31. D'Alessandro LC, Latney BC, Paluru PC, Goldmuntz E. The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. Am J Med Genet A. 2013;161A( 4): 792-802.
32. Gerhardt C, Lier JM, Kuschel S, Rüther U. The ciliary protein Ftm is required for ventricular wall and septal development. PLoS One. 2013;8( 2): e57545.
33. Martínez-Lavín M, Bobadilla M, Casanova J, Attié F, Martínez M. Hypertrophic osteoarthropathy in cyanotic congenital heart disease: its prevalence and relationship to bypass of the lung. Arthritis Rheum. 1982; 25( 10): 1186-1193.
34. Schwabe GC, Hoffmann K, Loges NT, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat. 2008; 29( 2): 289-298.
35. Marthin JK, Nielsen KG. Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia. Eur Respir J. 2011; 37( 3): 559-565.