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<p>Male infertility affects a significant number of couples worldwide, yet the precise causes and genetic mechanisms underlying this condition remain largely unknown.&#xa0;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.&#xa0;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.</p>

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Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yield

  • 期刊论文

  • 发表日期：

    2025年9月4日

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  • Dapeng Zhou,
  • Ambrin Fatima,
  • Afrasiab Ahmed,
  • Tehseen Ullah Khan Afridi,
  • Haq Nawaz Khan,
  • Mussarat Ashraf,
  • Muhammad Naeem,
  • Syed Babar Jamal,
  • Ishtiaq Hassan,
  • Erica E. Davis,
  • Feng Zhang,
  • Rehana Rehman,
  • Chunyu Liu,
  • Tahir N. Khan

摘要

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.