SUN5复合杂合突变导致无头精子症一例OA

Acephalic spermatozoa is a severe sperm malformation characterized by the presence of sperm without heads and detached sperm heads,and abnormal head-neck connections in the semen.Here we report a case of male infertility due to acephalic spermatozoa.Through family-based whole exome sequencing and Sanger sequencing verification,it was found that the patient has compound heterozygous mutations c.7C>T(p.Arg3Trp)and c.1043A>T(p.Asn348Ile)in the SUN5 gene.Both parents were the heterozygous carriers of these mutations.Further protein functional assays predicted that the compound heterozygous mutations in SUN5 are disruptive to protein function.These findings suggest that SUN5 mutation may be a causative factor for acephalic spermatozoa in this patient.The spouse of the patient achieved clinical pregnancy and live birth through intracytoplasmic sperm injection(ICSI)technology,indicating that ICSI is currently the most direct assisted reproductive method for such patients.