A novel homozygous frameshift mutation in the CCDC151 causing primary ciliary dyskinesia with azoospermia in a Chinese family

The article describes a case of a 40-year-old man with primary ciliary dyskinesia (PCD) and azoospermia who presented with recurrent respiratory infections, chronic sinusitis, and diffuse bilateral bronchiectasis. Whole exome sequencing identified a novel homozygous frameshift mutation in the CCDC151 gene (c.986dupT) resulting in premature protein termination. Analyses revealed complete loss of outer dynein arm (ODA) components in respiratory cilia and complete ciliary immotility. Functional assays confirmed that the mutation produces a stable truncated CCDC151 protein. This novel mutation expands the spectrum of known pathogenic CCDC151 variants and supports an association between CCDC151 dysfunction and azoospermia.