Zhou Dapeng, Fatima Ambrin, Ahmed Afrasiab, Khan Afridi Tehseen Ullah, Khan Haq Nawaz, Ashraf Mussarat, Naeem Muhammad, Jamal Syed Babar, Hassan Ishtiaq, Davis Erica E, Zhang Feng, Rehman Rehana, Liu Chunyu, Khan Tahir N
Soong Ching Ling Institute of Maternity and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, 200030, China.
Mol Genet Genomics. 2025 Sep 4;300(1):87. doi: 10.1007/s00438-025-02286-y.
Male infertility affects a significant number of couples worldwide, yet the precise causes and genetic mechanisms underlying this condition remain largely unknown. To investigate the monogenic causes of primary male infertility, we performed exome sequencing (ES) in a cohort of 100 unrelated Pakistani male patients with non-obstructive, non-syndromic primary infertility. ES identified potential causal variants in established infertility-associated genes in 17/100 patients, resulting in a diagnostic yield of 17%. This highlights the effectiveness of next-generation sequencing technologies, particularly the ES approach, in unraveling the genetic basis of male infertility. Overall, this study provides valuable insights into the genetic underpinnings of male infertility. Our findings explore the diagnostic potential of ES and expand the spectrum of causal variants underlying male infertility.
男性不育影响着全球大量的夫妇，但这种情况背后的确切原因和遗传机制在很大程度上仍不为人知。为了研究原发性男性不育的单基因病因，我们对100名无亲缘关系的巴基斯坦男性原发性非梗阻性、非综合征性不育患者进行了外显子组测序（ES）。ES在100名患者中的17名中鉴定出了已确定的与不育相关基因中的潜在致病变异，诊断率为17%。这突出了下一代测序技术，特别是ES方法在揭示男性不育遗传基础方面的有效性。总体而言，本研究为男性不育的遗传基础提供了有价值的见解。我们的研究结果探索了ES的诊断潜力，并扩大了男性不育潜在致病变异的范围。
