国际生殖健康/计划生育杂志2026，Vol.45Issue(4)：285-289,5.DOI:10.12280/gjszjk.20260048
SUN5复合杂合突变导致无头精子症一例
Compound Heterozygous Mutations in SUN5 Cause Acephalic Spermatozoa:A Case Report
摘要
Abstract
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.关键词
无头精子症/不育,男(雄)性/突变/遗传变异/精子注射,细胞质内Key words
Acephalic spermatozoa/Infertility,male/Mutation/Genetic variation/Sperm injections,intracytoplasmic引用本文复制引用
陈海霞,杨琳,穆晓环,宋学茹,田文艳,白晓红..SUN5复合杂合突变导致无头精子症一例[J].国际生殖健康/计划生育杂志,2026,45(4):285-289,5.基金项目
国家自然科学基金(82001617) （82001617）
天津市医学重点学科建设项目(TJYXZDXK-007C) （TJYXZDXK-007C）
