{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:48Z","timestamp":1790768928887,"version":"4.1.0"},"reference-count":61,"publisher":"BMJ","issue":"8","funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32100480, 81971447, 82171608, 82101961, 81971441 a"],"award-info":[{"award-number":["32100480, 81971447, 82171608, 82101961, 81971441 a"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Key Research and Development Program of China","award":["2018YFC1004901 and 2021YFC2700901"],"award-info":[{"award-number":["2018YFC1004901 and 2021YFC2700901"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2022,12,16]]},"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Spermatogenic impairments can lead to male infertility by different pathological conditions, such as multiple morphological abnormalities of the sperm flagella (MMAF) and non-obstructive azoospermia (NOA). Genetic factors are involved in impaired spermatogenesis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>Here, we performed genetic analyses through whole-exome sequencing in a cohort of 334 Han Chinese probands with severe MMAF or NOA. Biallelic variants of <jats:italic>CFAP54<\/jats:italic> were identified in three unrelated men, including one homozygous frameshift variant (c.3317del, p.Phe1106Serfs*19) and two compound heterozygous variants (c.878G&gt;A, p.Arg293His; c.955C&gt;T, p.Arg319Cys and c.4885C&gt;T, p.Arg1629Cys; c.937G&gt;A, p.Gly313Arg). All of the identified variants were absent or extremely rare in the public human genome databases and predicted to be damaging by bioinformatic tools. The men harbouring <jats:italic>CFAP54<\/jats:italic> mutations exhibited abnormal sperm morphology, reduced sperm concentration and motility in ejaculated semen. Significant axoneme disorganisation and other ultrastructure abnormities were also detected inside the sperm cells from men harbouring <jats:italic>CFAP54<\/jats:italic> mutations. Furthermore, immunofluorescence assays showed remarkably reduced staining of four flagellar assembly-associated proteins (IFT20, IFT52, IFT122 and SPEF2) in the spermatozoa of <jats:italic>CFAP54-<\/jats:italic>deficient men. Notably, favourable clinical pregnancy outcomes were achieved with sperm from men carrying <jats:italic>CFAP54<\/jats:italic> mutations after intracytoplasmic sperm injection treatment.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our genetic analyses and experimental observations revealed that biallelic deleterious mutations of <jats:italic>CFAP54<\/jats:italic> can induce severe MMAF and NOA in humans.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2022-108887","type":"journal-article","created":{"date-parts":[[2023,1,2]],"date-time":"2023-01-02T13:20:35Z","timestamp":1672665635000},"page":"827-834","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":23,"title":["Biallelic mutations in <i>CFAP54<\/i> cause male infertility with severe MMAF and 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