A novel homozygous chromosomal deletion encompassing the ACTL9 gene is associated with cIVF polyspermy and male infertility.
Actin-like 9 (ACTL9) is a testis-specific actin-like protein located in the perinuclear theca of the sperm head and neck that plays a role in acrosome formation and sperm head shaping. Pathogenic mutations in ACTL9 have been reported to be associated with male infertility and fertilization failure after conventional in...