{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T06:11:33Z","timestamp":1790143893566,"version":"4.0.1"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:00:00Z","timestamp":1790121600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      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\n                      <jats:italic>CCDC151<\/jats:italic>\n                      have been reported rarely, and azoospermia associated with\n                      <jats:italic>CCDC151<\/jats:italic>\n                      -related PCD remains poorly characterized\n                      <jats:bold>.<\/jats:bold>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole exome sequencing (WES) and sanger sequencing were used to identify disease-related genes in a Chinese family with PCD. Domain analysis was applied to predict the potential impact of the variant on CCDC151. Respiratory multiciliated cells were examined by high speed video microscopy analysis (HSVA), transmission electron microscopy (TEM), and immunofluorescence (IF) staining to assess the structural and functional consequences of the identified variant. Functional assays in Human embryonic kidney 293\u2005T (HEK293T) cells were performed to assess the impact of the identified variant on mRNA and protein expression.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We described a 40-year-old man with recurrent respiratory infections, chronic sinusitis, diffuse bilateral bronchiectasis, and azoospermia. WES identified a previously unreported homozygous frameshift variant in\n                      <jats:italic>CCDC151<\/jats:italic>\n                      (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\u2005kDa in mutant-transfected cells, confirming that the c.986dupT variant produces a stable truncated CCDC151 protein. These findings support the pathogenicity of this novel\n                      <jats:italic>CCDC151<\/jats:italic>\n                      variant. We further reviewed published cases of\n                      <jats:italic>CCDC151<\/jats:italic>\n                      -related PCD, highlighting the rarity and allelic heterogeneity of this subtype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We identified a novel homozygous frameshift\n                      <jats:italic>CCDC151<\/jats:italic>\n                      variant in a patient with PCD and azoospermia, expanding the mutational and phenotypic spectra of\n                      <jats:italic>CCDC151<\/jats:italic>\n                      -related PCD and supporting an association between CCDC151 dysfunction and azoospermia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2026.1929775","type":"journal-article","created":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T05:49:57Z","timestamp":1790142597000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel homozygous frameshift mutation in the CCDC151 causing primary ciliary dyskinesia with azoospermia in a Chinese family"],"prefix":"10.3389","volume":"13","author":[{"given":"Hui","family":"Fan","sequence":"first","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University","place":["Changsha, Hunan, China"]},{"name":"Research Unit of Respiratory Disease, Central South University","place":["Changsha, Hunan, China"]},{"name":"Clinical Medical Research Center for Pulmonary and Critical Care Medicine in Human Province","place":["Changsha, Hunan, China"]},{"name":"Hunan Diagnosis and Treatment Center of Respiratory 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