{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:21:40Z","timestamp":1790799700864,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T00:00:00Z","timestamp":1641945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Non\u2010obstructive azoospermia (NOA) is a common cause of male infertility, and genetic problems, such as chromosomal abnormalities and gene mutations, are important causes of NOA. Our centre received a case of NOA, in which no mature sperm was found during microdissection testicular sperm extraction. A postoperative pathological examination revealed that testicular spermatogenesis was blocked. Target region capture combined with high\u2010throughput sequencing was used to screen for male infertility\u2010related gene mutations. Sanger sequencing further confirmed that the <jats:italic>SYCE1<\/jats:italic>\u00a0gene, a central component of the synaptonemal complex (SC) during meiosis, had a homozygous deletion mutation in the tenth exon (c.689_690del; p.F230fs). Through molecular biological studies, we discovered altered expression and nuclear localization of the endogenous mutant SYCE1. To verify the effects in vitro, wild\u2010 and mutated\u2010type <jats:italic>SYCE1<\/jats:italic> vectors were constructed and transfected into a human cell line. The results showed that the expression and molecular weight were decreased for SYCE1 containing c.689_690del. In addition, mutated SYCE1 was abnormally located in the cytoplasm rather than in the nucleus. In summary, our research suggests that the novel homozygous mutation (c.689_690del; p.F230fs) altered the SYCE1 expression pattern and may have disturbed SC assembly, leading to male infertility and to a barrier to gamete formation. We reported for the first time that a frameshift mutation occurred in the exon region of <jats:italic>SYCE1<\/jats:italic> in an NOA patient. This study is beneficial for accurate NOA diagnosis and the development of corresponding gene therapy strategies.<\/jats:p>","DOI":"10.1111\/jcmm.17180","type":"journal-article","created":{"date-parts":[[2022,1,13]],"date-time":"2022-01-13T06:09:19Z","timestamp":1642054159000},"page":"1245-1252","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Novel exon mutation in <i>SYCE1<\/i> gene is associated with non\u2010obstructive azoospermia"],"prefix":"10.1111","volume":"26","author":[{"given":"Ke","family":"Feng","sequence":"first","affiliation":[{"name":"Reproductive Medicine Center Henan Provincial People\u2019s Hospital People's Hospital of Zhengzhou University Henan Provincial People\u2019s Hospital of Henan University Zhengzhou China"},{"name":"Henan Joint International Research Laboratory of Reproductive Bioengineering Zhengzhou 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