Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific form of severe flagellar or ciliary deficiency syndrome. MMAF is characterized by primary infertility with abnormal morphology in the flagella of spermatozoa, presenting with short, absent, bent, coiled, and irregular flagella. As a rare disease first named in 2014, studies in recent years have shed light on the molecular defects of MMAF that comprise the structure and biological function of the sperm flagella. Understanding the molecular genetics of MMAF may provide opportunities for the development of diagnostic and therapeutic strategies for this rare disease. This review aims to summarize current studies regarding the molecular pathogenesis of MMAF and describe strategies of genetic counseling, clinical diagnosis, and therapy for MMAF.
机构:
Fujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R China
Anhui Med Univ, NHC Key Lab Study Abnormal Gametes & Reprod Tract, Hefei, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, 20 Chazhong Rd, Fuzhou 350000, Fujian, Peoples R ChinaFujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R China
Liu, Zhiren
Guo, Yujia
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Fujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R ChinaFujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R China
Guo, Yujia
Chen, Xingting
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Fujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R ChinaFujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R China
Chen, Xingting
Lin, Chen
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Fujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R ChinaFujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R China
Lin, Chen
Guo, Xinxin
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Fujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R ChinaFujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R China
Guo, Xinxin
Jiang, Mingting
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Fujian Med Univ, Inst Translat Med, Sch Basic Med Sci, Fuzhou, Peoples R China
Fujian Med Univ, Inst Translat Med, Sch Basic Med Sci, 1 Xuefu North Rd, Fuzhou 350000, Fujian, Peoples R ChinaFujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R China
Jiang, Mingting
Liu, Qicai
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Fujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, 20 Chazhong Rd, Fuzhou 350000, Fujian, Peoples R ChinaFujian Med Univ, Affiliated Hosp 1, Ctr Reprod Med, Fuzhou, Peoples R China
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Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Xiamen Univ, Women & Childrens Hosp, Xiamen, Fujian, Peoples R ChinaXiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Sha, Yanwei
Wei, Xiaoli
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Xiamen Univ, Sch Pharmaceut Sci, Xiamen, Fujian, Peoples R ChinaXiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Wei, Xiaoli
Ding, Lu
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Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Xiamen Univ, Women & Childrens Hosp, Xiamen, Fujian, Peoples R ChinaXiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Ding, Lu
Mei, Libin
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Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Xiamen Univ, Women & Childrens Hosp, Xiamen, Fujian, Peoples R ChinaXiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Mei, Libin
Huang, Xianjing
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Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Xiamen Univ, Women & Childrens Hosp, Xiamen, Fujian, Peoples R ChinaXiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Huang, Xianjing
Lin, Shaobin
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Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Xiamen Univ, Women & Childrens Hosp, Xiamen, Fujian, Peoples R ChinaXiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Lin, Shaobin
Su, Zhiying
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Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Xiamen Univ, Women & Childrens Hosp, Xiamen, Fujian, Peoples R ChinaXiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Su, Zhiying
Kong, Lingyuan
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Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Xiamen Univ, Women & Childrens Hosp, Xiamen, Fujian, Peoples R ChinaXiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Kong, Lingyuan
Zhang, Yi
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Weifang Med Univ, Affiliated Hosp, Ctr Reprod Med, 2428 Yuhe Rd, Weifang 261031, Shandong, Peoples R ChinaXiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Zhang, Yi
Ji, Zhiyong
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Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
Xiamen Univ, Women & Childrens Hosp, Xiamen, Fujian, Peoples R ChinaXiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Dept Androl, Xiamen, Fujian, Peoples R China
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Cent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R ChinaCent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R China
Chang, Tianli
Tang, Hongying
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Cent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R ChinaCent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R China
Tang, Hongying
Zhou, Xu
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Cent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R ChinaCent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R China
Zhou, Xu
He, Jingliang
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Cent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R ChinaCent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R China
He, Jingliang
Liu, Nenghui
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Cent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R ChinaCent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R China
Liu, Nenghui
Li, Yanping
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Cent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R ChinaCent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R China
Li, Yanping
Xiang, Wenpei
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Huazhong Univ Sci & Technol, Tongji Med Coll, Ctr Reprod Med, Inst Reprod Hlth, Wuhan, Peoples R ChinaCent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R China
Xiang, Wenpei
Yao, Zhongyuan
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Cent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R ChinaCent South Univ, Xiangya Hosp, Reprod Med Ctr, Changsha, Hunan, Peoples R China
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Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R ChinaHuazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R China
Long, Rui
Wang, Meng
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Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R ChinaHuazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R China
Wang, Meng
Zhou, Juepu
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Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R ChinaHuazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R China
Zhou, Juepu
Mao, Ruolin
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Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R ChinaHuazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R China
Mao, Ruolin
Wang, Cheng
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Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R ChinaHuazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R China
Wang, Cheng
Gu, Longjie
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Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R ChinaHuazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R China
Gu, Longjie
Chen, Yinwei
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Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R ChinaHuazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R China
Chen, Yinwei
Jin, Lei
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Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R ChinaHuazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R China
Jin, Lei
Zhu, Lixia
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Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R ChinaHuazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Reprod Med Ctr, Wuhan, Peoples R China
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Cent South Univ, Inst Reprod & Stem Cell Engn, Sch Basic Med Sci, Changsha 410078, Peoples R ChinaCent South Univ, Inst Reprod & Stem Cell Engn, Sch Basic Med Sci, Changsha 410078, Peoples R China
Wang, Wei-Li
Tu, Chao-Feng
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Cent South Univ, Inst Reprod & Stem Cell Engn, Sch Basic Med Sci, Changsha 410078, Peoples R ChinaCent South Univ, Inst Reprod & Stem Cell Engn, Sch Basic Med Sci, Changsha 410078, Peoples R China
Tu, Chao-Feng
Tan, Yue-Qiu
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Cent South Univ, Inst Reprod & Stem Cell Engn, Sch Basic Med Sci, Changsha 410078, Peoples R China
Reprod & Genet Hosp CITIC Xiangya, Changsha 410078, Peoples R China
Natl Engn & Res Ctr Human Stem Cell, Changsha 410078, Peoples R ChinaCent South Univ, Inst Reprod & Stem Cell Engn, Sch Basic Med Sci, Changsha 410078, Peoples R China
机构:
Jinzhou Med Univ, Affiliated Hosp 1, Gen Practice, Jinzhou, Peoples R ChinaJinzhou Med Univ, Affiliated Hosp 1, Gen Practice, Jinzhou, Peoples R China
Sha, Yankun
Sha, Yanwei
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Xiamen Univ, United Diagnost & Res Ctr Clin Genet, Sch Publ Hlth, Dept Androl, Xiamen, Peoples R China
Xiamen Univ, Women & Childrens Hosp, Xiamen, Peoples R ChinaJinzhou Med Univ, Affiliated Hosp 1, Gen Practice, Jinzhou, Peoples R China
Sha, Yanwei
Liu, Wensheng
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Southern Med Univ, Zhujiang Hosp, Dept Gynecol & Obstet, Obstet & Gynecol Ctr, Guangzhou 510280, Guangdong, Peoples R ChinaJinzhou Med Univ, Affiliated Hosp 1, Gen Practice, Jinzhou, Peoples R China
Liu, Wensheng
Zhu, Xingshen
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Xiamen Univ, Sch Pharmaceut Sci, Xiamen, Peoples R ChinaJinzhou Med Univ, Affiliated Hosp 1, Gen Practice, Jinzhou, Peoples R China
Zhu, Xingshen
Weng, Mingxiang
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Xiamen Univ, Sch Life Sci, Xiamen, Peoples R ChinaJinzhou Med Univ, Affiliated Hosp 1, Gen Practice, Jinzhou, Peoples R China
Weng, Mingxiang
Zhang, Xinzong
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Family Planning Res Inst Guangdong Prov, NHC Key Lab Male Reprod & Genet, Guangzhou 510600, Peoples R ChinaJinzhou Med Univ, Affiliated Hosp 1, Gen Practice, Jinzhou, Peoples R China
Zhang, Xinzong
Wang, Yifeng
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Southern Med Univ, Zhujiang Hosp, Dept Gynecol & Obstet, Obstet & Gynecol Ctr, Guangzhou 510280, Guangdong, Peoples R ChinaJinzhou Med Univ, Affiliated Hosp 1, Gen Practice, Jinzhou, Peoples R China
Wang, Yifeng
Zhou, Huiliang
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Fujian Med Univ, Affiliated Hosp 1, Dept Androl, Fuzhou 350005, Fujian, Peoples R ChinaJinzhou Med Univ, Affiliated Hosp 1, Gen Practice, Jinzhou, Peoples R China