| HRA003696
(Controlled Access)
|
Sperm head malformation is another important factor of male infertility. The perinuclear membrane (PT) of sperm is a cytoskeletal element that envelop the nucleus of sperm. However, the physiological role of PT in sperm is largely uncertain. ACTRT1, ACTRT2, ACTL7A, and ACTL9 proteins interact to form amultimeric complex and localize to the subacrosomal region of spermatids. ACTRT1 deletion leads to a high incidence of deformities of the head and apicast detachment from the sperm nucleus, which is caused by the loosening of apicast structure during spermatogenesis. We analyzed the pathogenic gene ACTRT1 in a patient with primary infertility by whole exon sequencing. The pathogenic variants of this gene are highly conserved and showed to be harmful and rare in silicon analysis. Our study provides further insight for clinician researchers to address the genetic causes of sperm head malformations in patients. |
