{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T10:09:31Z","timestamp":1780567771716,"version":"3.54.1"},"reference-count":43,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,23]],"date-time":"2023-04-23T00:00:00Z","timestamp":1682208000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Primary ciliary dyskinesia (PCD) is typically an autosomal recessive disease characterized by recurrent infections of the lower respiratory tract, frequent and severe otitis media, chronic rhinosinusitis, neonatal respiratory distress, and organ laterality defects. While severe lower respiratory tract infections and bronchiectasis are common in Inuit, PCD has not been recognized in this population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a case series of seven Inuit patients with PCD identified by genetic testing in three Canadian PCD centers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients ranged from 4 to 59 years of age (at time of last evaluation) and originated in the Qikiqtaaluk region (Baffin Island, <jats:italic>n<\/jats:italic>\u2009=\u20095), Nunavut, or Nunavik (northern Quebec, <jats:italic>n<\/jats:italic>\u2009=\u20092), Canada. They had typical features of PCD, including neonatal respiratory distress (five patients), <jats:italic>situs inversus totalis<\/jats:italic> (four patients), bronchiectasis (four patients), chronic atelectasis (six patients), and chronic otitis media (six patients). Most had chronic rhinitis. Genetic evaluation demonstrated that all had homozygous pathogenic variants in <jats:italic>DNAH11<\/jats:italic> at NM_001277115.1:c.4095+2C&gt;A.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The discovery of this homozygous <jats:italic>DNAH11<\/jats:italic> variant in widely disparate parts of the Nunangat (Inuit homelands) suggests this is a founder mutation that may be widespread in Inuit. Thus, PCD may be an important cause of chronic lung, sinus, and middle ear disease in this population. Inuit with chronic lung disease, including bronchiectasis or laterality defects, should undergo genetic testing for PCD. Consideration of including PCD genetic analysis in routine newborn screening should be considered in Inuit regions.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.26414","type":"journal-article","created":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T05:01:23Z","timestamp":1682312483000},"page":"1942-1949","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit"],"prefix":"10.1002","volume":"58","author":[{"given":"Julia","family":"Hunter\u2010Schouela","sequence":"first","affiliation":[{"name":"Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael T.","family":"Geraghty","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Hegele","sequence":"additional","affiliation":[{"name":"Department of Medicine and Robarts Research Institute Western University London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Dyment","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"St Pierre","sequence":"additional","affiliation":[{"name":"Respiratory Epidemiology and Clinical Research Unit, Department of Medicine McGill University Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Richer","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holden","family":"Sheffield","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Qikiqtani General Hospital Iqaluit Nunavut Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Marsico Lung Institute University of North Carolina Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Knowles","sequence":"additional","affiliation":[{"name":"Department of Medicine, Marsico Lung Institute University of North Carolina School of Medicine Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Lehman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia on behalf of the Silent Genomes Precision Medicine Consortium Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Dell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics BC Children's Hospital Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam J.","family":"Shapiro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics McGill University Health Centre Research Institute Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0521-8936","authenticated-orcid":false,"given":"Thomas A.","family":"Kovesi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-0808"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00001010"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics11071278"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00453-7"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201406-257OC"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-0496(200003)29:3<182::AID-PPUL5>3.0.CO;2-T"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/00039896.1968.10665274"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1155\/1997\/319024"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0819ST"},{"key":"e_1_2_10_11_1","unstructured":"Crown\u2010Indigenous Relations and Northern Affairs Canada. Indigenous Peoples and Communities. 2022. Accessed October 18 2022.https:\/\/www.rcaanc-cirnac.gc.ca\/eng\/1100100013785\/1529102490303"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201409-1672OC"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104193"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2011-200301"},{"issue":"3","key":"e_1_2_10_15_1","article-title":"Genome\u2010wide sequencing and the clinical diagnosis of genetic disease: the CAUSES study","volume":"3","author":"Elliott AM","year":"2022","journal-title":"HGG Adv"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201904-347OT"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1726"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.21402"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.2310\/7070.2002.19153"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.37"},{"key":"e_1_2_10_21_1","article-title":"Targeted next\u2010generation sequencing and bioinformatics pipeline to evaluate genetic determinants of constitutional disease","volume":"134","author":"Dilliott AA","year":"2018","journal-title":"J Vis Exp"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.04.012"},{"issue":"3","key":"e_1_2_10_24_1","first-page":"249","article-title":"Morbidity in Canadian Indian and non\u2010Indian children in the first year of life","volume":"126","author":"Evers SE","year":"1982","journal-title":"Can Med Assoc J"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.24447"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.061574"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.3402\/ijch.v63i0.17926"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1183\/16000617.0058-2016"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102755"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1513\/pats.201103-023SD"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20656"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2016.263"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.152337699"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00186209"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23031753"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.21037\/jtd.2019.04.71"},{"key":"e_1_2_10_37_1","unstructured":"Association QI. About the Qikiqtani Region. 2022. Accessed September 10 2022.\u00a0https:\/\/www.qia.ca\/about-qikiqtani\/"},{"key":"e_1_2_10_38_1","unstructured":"Canada. Census Profile 2016 Census Nunavut [Territory] and Canada [Country]. 2021. Accessed September 10 2022.\u00a0https:\/\/www12.statcan.gc.ca\/census-recensement\/2016\/dp-pd\/prof\/details\/Page.cfm?Lang=E&Geo1=PR&Code1=62&Geo2=&Code2=&Data=Count&SearchText=Nunavut&SearchType=Begins&SearchPR=01&B1=All&GeoLevel=PR&GeoCode=62"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.07.013"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.678553"},{"key":"e_1_2_10_41_1","unstructured":"Canada. Population and Dwelling Counts: Canada Provinces and Territories and Census Subdivisions (Municipalities) \u2013 Geographic Name: Nunavut. Accessed February 4 2023.https:\/\/www150.statcan.gc.ca\/t1\/tbl1\/en\/tv.action?pid=9810000202&pickMembers%5B0%5D=1.5434"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.188"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.002"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22371"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.26414","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T05:39:07Z","timestamp":1697175547000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.26414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,23]]},"references-count":43,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/ppul.26414"],"URL":"https:\/\/doi.org\/10.1002\/ppul.26414","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,23]]},"assertion":[{"value":"2022-10-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}