Video 1_A novel homozygous frameshift mutation in the CCDC151 causing primary ciliary dyskinesia with azoospermia in a Chinese family.avi

WES identified a previously unreported homozygous frameshift variant in CCDC151 (NM_145045.5:c.986dupT; p. Gln330ThrfsTer40), predicted to result in premature protein truncation. IF staining showed complete loss of the ODA components DNAH5 and DNAI1 from respiratory cilia, and TEM confirmed absence of ODA in the cilia axonemes.

Consistently, HSVA revealed complete ciliary immotility. Functional assays revealed comparable mRNA levels between wild-type and mutant constructs, and western blotting detected a truncated protein of approximately 41 kDa in mutant-transfected cells, confirming that the c.986dupT variant produces a stable truncated CCDC151 protein. These findings support the pathogenicity of this novel CCDC151 variant.

We further reviewed published cases of CCDC151-related PCD, highlighting the rarity and allelic heterogeneity of this subtype.</p>Conclusion<p>We identified a novel homozygous frameshift CCDC151 variant in a patient with PCD and azoospermia, expanding the mutational and phenotypic spectra of CCDC151-related PCD and supporting an association between CCDC151 dysfunction and azoospermia.</p>