biostudies-literatureUnknown26(5)Tang SX<h4>Abstract</h4>The cause of asthenozoospermia (AZS) is not well understood because of its complexity and heterogeneity. Although some gene mutations have been identified as contributing factors, they are only responsible for a small number of cases. Radial spokes (RSs) are critical for adenosine triphosphate-driven flagellar beating and axoneme stability, which is essential for flagellum motility. In this study, we found novel compound heterozygous mutations in leucine-rich repeat-containing protein 23 ( LRRC23 ; c.1018C>T: p.Q340X and c.881_897 Del: p.R295Gfs*32) in a proband from a nonconsanguineous family with AZS and male infertility. Diff-Quik staining and scanning electron microscopy revealed no abnormal sperm morphology. Western blotting and immunofluorescence staining showed thatAsian journal of andrology484-489https://www.ebi.ac.uk/biostudies/studies/S-EPMC11449404biostudies-literatureNovel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family.PMC11449404Chen QLiu SYXiao ZZhou SHuang HLDing YLLin XZhou HLTang SXZhang XXiao HYang PChen XLiu MXfalseNovel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family.<h4>Abstract</h4>The cause of asthenozoospermia (AZS) is not well understood because of its complexity and heterogeneity. Although some gene mutations have been identified as contributing factors, they are only responsible for a small number of cases. Radial spokes (RSs) are critical for adenosine triphosphate-driven flagellar beating and axoneme stability, which is essential for flagellum motility. In this study, we found novel compound heterozygous mutations in leucine-rich repeat-containing protein 23 ( LRRC23 ; c.1018C>T: p.Q340X and c.881_897 Del: p.R295Gfs*32) in a proband from a nonconsanguineous family with AZS and male infertility. Diff-Quik staining and scanning electron microscopy revealed no abnormal sperm morphology. Western blotting and immunofluorescence staining showed that2024-01-01T00:00:00Z2024 Sep2025-04-18T15:56:47.399Z2025-04-07T02:52:38.704ZS-EPMC114494043905479210.4103/aja202435