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DNAAF3 plays an important role in the assembly and transportation of axonemal dynein complexes in cilia or flagella and has been shown to be associated with PCD. To date, only two cases of PCD with infertility associated with <jats:italic>DNAAF3<\/jats:italic> mutations have been reported, and no mouse models for this gene have been successfully constructed. This study was conducted on an infertile Chinese male patient with a history of bronchitis. Examination of the patient's semen revealed severe asthenozoospermia and teratospermia. Whole exome sequencing revealed a new homozygous loss\u2010of\u2010function <jats:italic>DNAAF3<\/jats:italic> mutation. CRISPR\u2010Cas9 gene\u2010editing technology was used to construct the same mutation in C57\/B6 mice, revealing that homozygous C57\/B6 mice were characterized by severe hydrocephalus and early death. The results of this study expand the mutation spectrum of <jats:italic>DNAAF3<\/jats:italic> and confirm its correlation with PCD pathogenesis. This study provides new insights on the mechanisms underlying male infertility related to <jats:italic>DNAAF3<\/jats:italic> mutation and PCD.<\/jats:p>","DOI":"10.1111\/jcmm.70092","type":"journal-article","created":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T03:39:15Z","timestamp":1726630755000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel homozygous mutation in the <scp><i>DNAAF3<\/i><\/scp> gene leads to severe asthenozoospermia and teratospermia"],"prefix":"10.1111","volume":"28","author":[{"given":"Dongjia","family":"Chen","sequence":"first","affiliation":[{"name":"Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital Sun Yat\u2010sen University  Guangzhou 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