Evidence map›Paper›PMID 40906241›Full record

ArticleMolecular genetics and genomics : MGG2025

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

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 and 4 more

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Article in Molecular genetics and genomics : MGG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Dapeng Zhou *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.
Ambrin Fatima *Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.
Afrasiab AhmedDepartment of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Khyber Pakhtunkhwa, Pakistan.
Tehseen Ullah Khan AfridiDepartment of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.ORCID http://orcid.org/0000-0003-1333-6104
Haq Nawaz KhanDepartment of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, Pakistan.
Mussarat AshrafDepartment of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.
Muhammad NaeemDepartment of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
Syed Babar JamalDepartment of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
Ishtiaq HassanDepartment of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Khyber Pakhtunkhwa, Pakistan.
Erica E DavisStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Feng ZhangSoong 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.
Rehana RehmanDepartment of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan. rehana.rehman@aku.edu.
Chunyu LiuSoong 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. liuchunyu@shsmu.edu.cn.
Tahir N KhanDepartment of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan. tkhan@luriechildrens.org.ORCID http://orcid.org/0000-0003-3096-8795

Funding

111 Project B13016China Postdoctoral Science Foundation 2020TQ0072National Natural Science Foundation of China 31625015, 31521003, 32100480, 32370654Shanghai Municipal Science and Technology Major Project 2017SHZDZX01
6 · The paper itself

Abstract

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.

Indexed as

ExomeExome SequencingInfertility, MaleAdultCohort StudiesGenetic HeterogeneityGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMalePakistanDiagnostic yieldExome sequencingGenetic underpinningsGenotype-phenotype correlationInfertility-associated genesMale infertility

Identifiers

PMID40906241

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