DPY19L2基因突变导致圆头精子症的遗传学分析和辅助生殖助孕结局

目的 探讨DPY19L2基因突变的圆头精子症患者遗传学病因和辅助生殖助孕结局。方法 回顾性分析2021年1～8月就诊于安徽医科大学第一附属医院生殖中心的2例圆头精子症男性不育症患者的临床资料和精液参数,利用全外显子检测技术进行基因检测,采用卵胞浆内单精子注射联合卵母细胞激活技术（ICSI+AOA）进行辅助生殖治疗,并观察其助孕结局。结果 全外显子测序技术结果显示,2例患者的DPY19L2基因完全缺失;精液分析结果显示,患者精子活力下降,精子畸形率100%,均为圆头精子,无顶体结构。2例患者夫妇均接受ICSI+AOA助孕,受精率分别为71.4%和77.7%,均已成功生育血亲后代。结论 DPY19L2基因突变是圆头精子症的重要遗传学原因,ICSI+AOA技术可有效提高卵子受精率,帮助患者解决生育难题。

Genetic analysis and outcomes of assisted reproduction in patients with globozoospermiacaused by DPY19L2 gene mutations

Objective To explore the genetic etiology and the outcomes of assisted reproduction in patients with globozoospermia caused by DPY19L2 gene mutations. Methods The clinical data and semen parameters of twoglobozoospermic patients who attended the Reproductive Medicine Center of the First Affiliated Hospital of Anhui Medical University during January 2021 to August 2021 were retrospectively analyzed. Then, the whole exome sequencing(WES) was used to detect the possible genetic mutation in these two patients.Intracytoplasmic sperm injection (ICSI) combined with artificial oocyte activation(AOA) were applied for assisted reproduction treatment, and the outcomes of reproduction in the two couples were observed. Results The homozygous deletion of DPY19L2 gene was identified in two globozoospermic patients by WES. Semen analysis of the patients indicated the reduction of sperm motility, 100% of round-headed sperm, and loss of acrosome structure. The two couples successfully delivered offsprings by ICSI+AOA strategy, and the fertilization rate was 71.4% and 77.7%, respectively. Conclusions DPY19L2 gene mutation is an important cause of globozoospermia. ICSI+AOA strategy can effectively improve the fertilization rate, and help these patients with infertility problems.