In summary, using a combination of WES, ROH and bioinformatics analyses, three novel homozygous variants, including ARMC4 (c.1488delG/p.E497Kfs*3), DYX1C1 (c.384delC/p.Y128*) and DNAI1 (c.1562T > G/p.I521S), and one previously reported variant, CCNO (c.248_249insGCCCG/p.Q88Rfs*8), were identified in four PCD families. Here, DNAAF4 is linked to primary ciliary dyskinesia.