Sperm-egg fusion disorder in a Chinese male patient was associated with a rare ADAM20 variant
| Autor: | Wei-Wu Liu, Libin Mei, Zhi-Yong Ji, Yanwei Sha, Ping Li, Hong Ji, Xiaohui Xu, Lin Li, Ping-Ping Qiu |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Infertility endocrine system medicine.medical_treatment ADAM20 Biology Insemination Intracytoplasmic sperm injection Andrology 03 medical and health sciences 0302 clinical medicine medicine whole-exome sequencing Zona pellucida reproductive and urinary physiology Exome sequencing In vitro fertilisation urogenital system medicine.disease Sperm 030104 developmental biology medicine.anatomical_structure Oncology Sperm-egg fusion 030220 oncology & carcinogenesis embryonic structures in vitro fertilization Immunostaining Research Paper |
| Zdroj: | Oncotarget |
| ISSN: | 1949-2553 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|