Mengmeng Lu1,2,3,4, Shuai Kong5, Mingfei Xiang1,2,3,4, Yu Wang1,2,3,4, Jingjing Zhang1,2,3,4, Zongliu Duan1,2,3,4, Xiaomin Zha1,2,3,4, Fengsong Wang6, Yunxia Cao7,8,9,10, Fuxi Zhu11,12,13,14. 1. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. 2. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, Anhui, China. 3. Key Laboratory of Population Health Across Life Cycle, Ministry of Education of the People's Republic of China, Anhui Medical University, Hefei, 230032, Anhui, China. 4. Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China. 5. School of Life Science, Anhui Medical University, Hefei, 230022, China. 6. School of Life Science, Anhui Medical University, Hefei, 230022, China. fengsongw@ahmu.edu.cn. 7. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. caoyunxia6@126.com. 8. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, Anhui, China. caoyunxia6@126.com. 9. Key Laboratory of Population Health Across Life Cycle, Ministry of Education of the People's Republic of China, Anhui Medical University, Hefei, 230032, Anhui, China. caoyunxia6@126.com. 10. Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China. caoyunxia6@126.com. 11. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. fxzhu@ahmu.edu.cn. 12. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, 230032, Anhui, China. fxzhu@ahmu.edu.cn. 13. Key Laboratory of Population Health Across Life Cycle, Ministry of Education of the People's Republic of China, Anhui Medical University, Hefei, 230032, Anhui, China. fxzhu@ahmu.edu.cn. 14. Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China. fxzhu@ahmu.edu.cn.
Abstract
PURPOSE: To identify the pathogenic mutation in PMFBP1 leading to acephalic spermatozoa syndrome. METHODS: Sanger sequencing was used to screen for mutations in the known pathogenic genes SUN5 and PMFBP1 in a patient with acephalic spermatozoa syndrome. Western blotting and immunofluorescence were used to detect the expression and localization of PMFBP1 in sperm. At the same time, a PMFBP1 mutant was constructed, and the expression level of PMFBP1 protein was further verified by in vitro experiments. RESULTS: We identified a novel homozygous PMFBP1 missense mutation, c.301A>C (p.T101P), in an infertile male from a consanguineous family. Our results showed that the expression of PMFBP1 mutant protein was decreased obviously in sperm of the patient. CONCLUSION: Our results showed that the novel homozygous missense mutation of PMFBP1 may be a cause of acephalic spermatozoa syndrome, which provided a basis for genetic counseling for the patient.
PURPOSE: To identify the pathogenic mutation in PMFBP1 leading to acephalic spermatozoa syndrome. METHODS: Sanger sequencing was used to screen for mutations in the known pathogenic genes SUN5 and PMFBP1 in a patient with acephalic spermatozoa syndrome. Western blotting and immunofluorescence were used to detect the expression and localization of PMFBP1 in sperm. At the same time, a PMFBP1 mutant was constructed, and the expression level of PMFBP1 protein was further verified by in vitro experiments. RESULTS: We identified a novel homozygous PMFBP1 missense mutation, c.301A>C (p.T101P), in an infertile male from a consanguineous family. Our results showed that the expression of PMFBP1 mutant protein was decreased obviously in sperm of the patient. CONCLUSION: Our results showed that the novel homozygous missense mutation of PMFBP1 may be a cause of acephalic spermatozoa syndrome, which provided a basis for genetic counseling for the patient.