A loss-of-function variant in SSFA2 causes male infertility with globozoospermia and failed oocyte activation

• Main Authors: Gelin Huang (Author), Xueguang Zhang (Author), Guanping Yao (Author), Lin Huang (Author), Sixian Wu (Author), Xiaoliang Li (Author), Juncen Guo (Author), Yuting Wen (Author), Yan Wang (Author), Lijun Shang (Author), Na Li (Author), Wenming Xu (Author)
• פורמט: ספר
• יצא לאור: BMC, 2022-07-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Globozoospermia (OMIM: 102530) is a rare type of teratozoospermia (< 0.1%). The etiology of globozoospermia is complicated and has not been fully revealed. Here, we report an infertile patient with globozoospermia. Variational analysis revealed a homozygous missense variant in the SSFA2...