Sperm-egg fusion disorder in a Chinese male patient was associated with a rare ADAM20 variant

• Published in: Oncotarget Vol. 9; no. 2; pp. 2086 - 2091
• Main Authors: Sha, Yan-Wei, Xu, Xiaohui, Ji, Zhi-Yong, Mei, Li-Bin, Qiu, Ping-Ping, Ji, Hong, Li, Ping, Li, Lin, Liu, Wei-Wu
• Format: Journal Article
• Language: English
• Published: United States Impact Journals LLC 05.01.2018
• Subjects: Research Paper; Sperm-egg fusion; in vitro fertilization; ADAM20; whole-exome sequencing
• ISSN: 1949-2553; 1949-2553
• DOI: 10.18632/oncotarget.23331

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 , 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 may be associated with sperm-egg fusion disorder in this patient.