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

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.

source https://www.jpeds.com/article/S0022-3476(23)00121-X/fulltext?rss=yes