Mingfei Xiang1,2,3,4, Yu Wang1,2,3,4, Weilong Xu5, Na Zheng1,2,3,4, Hongshi Deng6, Jingjing Zhang1,2,3,4, Zongliu Duan1,2,3,4, Xiaomin Zha1,2,3,4, Wenjun Zhang7, Gaojie Song8, Xuanming Shi9, Fengsong Wang10, Yunxia Cao11,12,13,14, Fuxi Zhu15,16,17,18. 1. Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, Anhui, 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 (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, Anhui, China. 4. Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, Anhui, China. 5. School of Life Science, Anhui Medical University, Hefei, 230022, Anhui, China. 6. Department of Biochemistry and Molecular Biology, Anhui Medical University, Hefei, 230032, Anhui, China. 7. Anhui Anke Biotechnology (Group) Co., Ltd, Hefei, 230032, Anhui, China. 8. Shanghai Key Laboratory of Regulatory, Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, 200241, China. 9. Department of Biochemistry and Molecular Biology, Anhui Medical University, Hefei, 230032, Anhui, China. xuanming.shi@ahmu.edu.cn. 10. School of Life Science, Anhui Medical University, Hefei, 230022, Anhui, China. fengsongw@ahmu.edu.cn. 11. Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, Anhui, China. caoyunxia6@126.com. 12. NHC Key Laboratory of Study On Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, Anhui, China. caoyunxia6@126.com. 13. Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, Anhui, China. caoyunxia6@126.com. 14. Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, Anhui, China. caoyunxia6@126.com. 15. Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, Anhui, China. fxzhu@ahmu.edu.cn. 16. NHC Key Laboratory of Study On Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, Anhui, China. fxzhu@ahmu.edu.cn. 17. Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, Anhui, China. fxzhu@ahmu.edu.cn. 18. Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, Anhui, China. fxzhu@ahmu.edu.cn.
Abstract
PURPOSE: To identify the genetic causes of multiple morphological anomalies of the flagella (MMAF) and oligoasthenoteratozoospermia (OAT). METHODS: Whole-exome sequencing (WES) was performed on the proband to identify pathogenic mutation for infertility. Western blotting and immunofluorescence analysis detected the expression level and localization of adenylate kinase 7 (AK7). RESULTS: We identified a novel homozygous missense mutation (NM_152327: c.1846G > A; p.E616K) in AK7 in two brothers with MMAF and OAT from a consanguineous family by WES. Western blotting and immunofluorescence experiments determined that the expression level of AK7 decreased in the sperm from the proband. The proband and his wife underwent two cycles of intracytoplasmic sperm injection (ICSI) treatment but got unfavorable outcomes. CONCLUSION: This study could provide precise genetic diagnosis for the patient and expand the spectrum of AK7 mutations.
PURPOSE: To identify the genetic causes of multiple morphological anomalies of the flagella (MMAF) and oligoasthenoteratozoospermia (OAT). METHODS: Whole-exome sequencing (WES) was performed on the proband to identify pathogenic mutation for infertility. Western blotting and immunofluorescence analysis detected the expression level and localization of adenylate kinase 7 (AK7). RESULTS: We identified a novel homozygous missense mutation (NM_152327: c.1846G > A; p.E616K) in AK7 in two brothers with MMAF and OAT from a consanguineous family by WES. Western blotting and immunofluorescence experiments determined that the expression level of AK7 decreased in the sperm from the proband. The proband and his wife underwent two cycles of intracytoplasmic sperm injection (ICSI) treatment but got unfavorable outcomes. CONCLUSION: This study could provide precise genetic diagnosis for the patient and expand the spectrum of AK7 mutations.
Authors: L E DeLisi; A M Boccio; H Riordan; A L Hoff; A Dorfman; J McClelland; M Kushner; O Van Eyl; N Oden Journal: Psychiatry Res Date: 1991-07 Impact factor: 3.222
Authors: Angeles Fernandez-Gonzalez; Stella Kourembanas; Todd A Wyatt; S Alex Mitsialis Journal: Am J Respir Cell Mol Biol Date: 2008-09-05 Impact factor: 6.914