Primary ciliary dyskinesia as a common cause of bronchiectasis in the Canadian Inuit population.

Abstract

Pediatric PulmonologyEarly View EDITORIAL Primary ciliary dyskinesia as a common cause of bronchiectasis in the Canadian Inuit population Deborah J. Morris-Rosendahl PhD, Corresponding Author Deborah J. Morris-Rosendahl PhD [email protected] orcid.org/0000-0002-7780-4707 Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Clinical Group, Guy's and St. Thomas' NHS Foundation Trust, London, UK National Heart and Lung Institute, Imperial College London, London, UK Correspondence Deborah J. Morris-Rosendahl, PhD, Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Clinical Group, Guy's and St. Thomas' NHS Foundation Trust, London, UK. Email: [email protected] Contribution: Conceptualization, ​Investigation, Writing - original draft, Writing - review & editingSearch for more papers by this author Deborah J. Morris-Rosendahl PhD, Corresponding Author Deborah J. Morris-Rosendahl PhD [email protected] orcid.org/0000-0002-7780-4707 Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Clinical Group, Guy's and St. Thomas' NHS Foundation Trust, London, UK National Heart and Lung Institute, Imperial College London, London, UK Correspondence Deborah J. Morris-Rosendahl, PhD, Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Clinical Group, Guy's and St. Thomas' NHS Foundation Trust, London, UK. Email: [email protected] Contribution: Conceptualization, ​Investigation, Writing - original draft, Writing - review & editingSearch for more papers by this author First published: 06 June 2023 https://doi.org/10.1002/ppul.26529Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES 1Evers SE, Rand CG. Morbidity in Canadian Indian and non-Indian children in the first year of life. Can Med Assoc J. 1982; 126(3): 249- 252. 2Das L, Kovesi TA. Bronchiectasis in children from Qikiqtani (Baffin) Region, Nunavut, Canada. Ann Am Thorac Soc. 2015; 12(1): 96- 100. 3Hunter-Schouela J, Geraghty MT, Hegele RA, et al. First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit. Pediatr Pulmonol. 2023. doi:10.1002/ppul.26414 4Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. FEBS Lett. 1997; 412: 325- 330. 5Hannah WB, Seifert BA, Truty R, 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- 468. 6Zariwala 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(8): 858- 866. 7Daniels MLA, Leigh MW, Davis SD, et al. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat. 2013; 34(10): 1352- 1356. 8Keicho N, Hijikata M, Morimoto K, et al. Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection. Mol Genet Genomic Med. 2020; 8(1):e1033. 9De Jesús-Rojas W, Reyes-De Jesús D, Mosquera RA. Primary ciliary dyskinesia diagnostic challenges: understanding the clinical phenotype of the Puerto Rican RSPH4A founder mutation. Diagnostics. 2021; 11(2): 281. 10Kim MJ, Kim S, Chae SW, et al. Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia. J Hum Genet. 2023; 68: 369- 374. 11Mabrouk I, Al-Harthi N, Mani R, et al. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. J Hum Genet. 2022; 67(7): 381- 386. 12D'Angelo CS, Hermes A, McMaster CR, et al. Barriers and considerations for diagnosing rare diseases in indigenous populations. Front Pediatr. 2020; 8:579924. Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation