Review
Open access
Sep 2026
A novel homozygous frameshift mutation in the CCDC151 causing primary ciliary dyskinesia with azoospermia in a Chinese family
CCDC151 is essential for outer dynein arms (ODA) docking and assembly, and loss of its function impairs mucociliary clearance, leading to primary ciliary dyskinesia (PCD). Pathogenic variants in CCDC151 have been reported rarely, and azoospermia associated with CCDC151 -related PCD remains poorly characterize...
Hui Fan, Lin Wang, Xiang-Lin Zhou et al.
· Frontiers in Medicine · 0 citations