Novel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family
作者机构：Department of Andrology and Sexual MedicineFirst Affiliated Hospital of Fujian Medical UniversityFuzhou 350005China State Key Laboratory of Reproductive Medicine and Offspring HealthThe Affiliated Taizhou People’s Hospital of Nanjing Medical UniversityTaizhou School of Clinical MedicineNanjing Medical UniversityNanjing 211166China State Key Laboratory of Reproductive Medicine and Offspring HealthDepartment of Histology and EmbryologySchool of Basic Medical SciencesNanjing Medical UniversityNanjing 211166China Public Technology Service Center Fujian Medical UniversityFuzhou 350108China
出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)
年 卷 期：2024年第26卷第5期
页 面：484-489页
核心收录：
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：supported by the National Key Research and Development Program of China(No.2022YFC2702702) National Natural Science Foundation of China(No.32270899 and No.32070842) the Natural Science Foundation of Jiangsu Province(No.BK20230004) Young and Middle-Aged Key Personnel Training Project of the Fujian Provincial Health Commission(2019-ZQN-62) Fujian Provincial Finance Project(BPB-TSX2021)
主 题：asthenozoospermia LRRC23 male infertility whole exome sequencing
摘 要：The cause of asthenozoospermia(AZS)is not well understood because of its complexity and *** some gene mutations have been identified as contributing factors,they are only responsible for a small number of *** spokes(RSs)are critical for adenosine triphosphate-driven flagellar beating and axoneme stability,which is essential for flagellum *** this study,we found novel compound heterozygous mutations in leucine-rich repeat-containing protein 23(LRRC23;c.1018CT:p.Q340X and c.881_897 Del:p.R295Gfs*32)in a proband from a nonconsanguineous family with AZS and male ***-Quik staining and scanning electron microscopy revealed no abnormal sperm *** blotting and immunofluorescence staining showed that these mutations suppressed LRRC23 expression in sperm ***,transmission electron microscopy showed the absence of RS3 in sperm flagella,which disrupts stability of the radial spoke complex and impairs *** in vitro fertilization and embryo transfer,the proband’s spouse achieved successful pregnancy and delivered a healthy *** conclusion,our study indicates that two novel mutations in LRRC23 are associated with AZS,but successful fertility outcomes can be achieved by in vitro fertilization-embryo transfer techniques.
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