Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations

Karolina Poplawska; Anne Griffiths; Renee Temme; Darryl J Adamko; Keith Nykamp; Adam J Shapiro

doi:10.1016/j.jpeds.2023.01.023

Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations

J Pediatr. 2023 Oct:261:113362. doi: 10.1016/j.jpeds.2023.01.023. Epub 2023 Feb 24.

Authors

Karolina Poplawska¹, Anne Griffiths², Renee Temme³, Darryl J Adamko⁴, Keith Nykamp⁵, Adam J Shapiro⁶

Affiliations

¹ Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Quebec, Canada.
² Department of Pediatrics, Children's Minnesota, Minneapolis, MN.
³ Department of Genetics, Children's Minnesota, Minneapolis, MN.
⁴ Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
⁵ Invitae, San Francisco, CA.
⁶ Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Quebec, Canada. Electronic address: adam.shapiro@muhc.mcgill.ca.

PMID: 36841509
DOI: 10.1016/j.jpeds.2023.01.023

Abstract

We report 4 cases of primary ciliary dyskinesia in unrelated indigenous North American children caused by identical, homozygous, likely pathogenic deletions in the DNAL1 gene. These shared DNAL1 deletions among dispersed indigenous populations suggest that primary ciliary dyskinesia accounts for more lung disease with bronchiectasis than previously recognized in indigenous North Americans.

Keywords: DNAL1; First Nation; indigenous; primary ciliary dyskinesia.

Publication types

Case Reports

MeSH terms

Bronchiectasis*
Child
Ciliary Motility Disorders* / genetics
Humans
North America
Racial Groups