Combined exome and whole-genome sequencing identifies mutations in <i>ARMC4</i> as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Abstract

We report the first use of whole-genome sequencing to identify gene mutations causing PCD. Loss-of-function mutations in ARMC4 cause PCD with situs inversus and cilia immotility, associated with a loss of the distal outer (but not inner) dynein arms. This addition of ARMC4 to the list of genes associated with ciliary outer dynein arm defects expands our understanding of the complexities of PCD genetics.