Sperm-egg fusion disorder in a Chinese male patient was associated with a rare ADAM20 variant
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Yan-Wei Sha1,*, Xiaohui Xu2,*, Zhi-Yong Ji1,*, Li-Bin Mei1, Ping-Ping Qiu1, Hong Ji1, Ping Li1, Lin Li3 and Wei-Wu Liu4
1Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian 361005, China
2School of Pharmaceutical Sciences, Xiamen University, Xiamen, Fujian 361005, China
3Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing 100026, China
4Department of Radiology, the 2nd Hospital Affiliated to Jilin University
*These authors contributed equally to this work
Lin Li, email: [email protected]
Wei-Wu Liu, email: [email protected]
Keywords: Sperm-egg fusion; ADAM20; whole-exome sequencing; in vitro fertilization
Received: May 24, 2017 Accepted: December 13, 2017 Published: December 16, 2017
We report here a 28-year-old male with infertility. No abnormality was found in his semen examination. The couple achieved a successful pregnancy under the help of intracytoplasmic sperm injection during which we found that sperm could enter the zona pellucida, but could not fuse with the egg within the short insemination period. We then performed whole-exome sequencing technology on this patient and found a rare variant (c.641A>C:p.D214A) in ADAM20, which encoded a disintegrin and metalloprotease 20 protein. To further verify the pathogenicity of this variant, we analyzed ADAM20 protein expression in spermatozoa by immunostaining analysis, which showed a mis-localization of ADAM20 in the patient’s spermatozoa. Therefore, we concluded that mutation in ADAM20 may be associated with sperm-egg fusion disorder in this patient.
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