RESUMO

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.

Assuntos

Bronquiectasia , Transtornos da Motilidade Ciliar , Criança , Humanos , Transtornos da Motilidade Ciliar/genética , América do Norte , Grupos Raciais