{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T02:52:28Z","timestamp":1781751148158,"version":"3.54.5"},"reference-count":0,"publisher":"The Korean Society for Reproductive Medicine","content-domain":{"domain":["ecerm.org"],"crossmark-restriction":true},"short-container-title":["Clin Exp Reprod Med"],"abstract":"<jats:p>Objective: Asthenozoospermia, characterized by diminished sperm motility, shows substantial genetic heterogeneity. Although many familial cases of asthenozoospermia have been documented, the genetic etiology for most affected males remains unknown.Methods: This study used clinical and molecular approaches to characterize a hereditary form of asthenozoospermia. Two patients born to consanguineous parents exhibited impaired sperm motility. Whole-genome sequencing (WGS), followed by Sanger sequencing, was performed for molecular diagnosis and was coupled with three-dimensional protein modeling to characterize the identified variant.Results: WGS revealed that both affected brothers carried a pathogenic variant (c.580C&gt;T; p.Gln194*) in dynein heavy chain domain 1 (DNHD1). Homozygous variants in DNHD1 have previously been linked to spermatogenic failure 65 (Online Mendelian Inheritance in Man [OMIM] 619712). Three-dimensional protein modeling demonstrated significant alterations in DNHD1 secondary structure that could contribute to loss-of-function.Conclusion: These findings support a role for DNHD1 in maintaining the structural and functional integrity of sperm. Accurate molecular diagnosis may facilitate genetic counseling and inform clinical management.<\/jats:p>","DOI":"10.5653\/cerm.2025.09019","type":"journal-article","created":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T02:24:31Z","timestamp":1781749471000},"update-policy":"https:\/\/doi.org\/10.5653\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel loss-of-function variant in\n                    <i>DNHD1<\/i>\n                    linked to human asthenozoospermia"],"prefix":"10.5653","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3141-6693","authenticated-orcid":true,"given":"Shoaib","family":"Nawaz","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-7058-6758","authenticated-orcid":true,"given":"Sidrah","family":"Shaheen","sequence":"additional","affiliation":[{"name":"Department of Psychology, Hazara University, Mansehra, Khyber Pakhtunkhwa, Pakistan"},{"name":"Department of Psychology, Government Girls Degree College Mansehra, Higher Education Department (HED), Khyber Pakhtunkhwa, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul","family":"Nasir","sequence":"additional","affiliation":[{"name":"Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anam","family":"Nayab","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of California San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranjha","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6729-9746","authenticated-orcid":true,"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia"},{"name":"Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3624","published-online":{"date-parts":[[2026,6,18]]},"container-title":["Clinical and Experimental Reproductive Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/ecerm.org\/upload\/pdf\/cerm-2025-09019.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T02:24:31Z","timestamp":1781749471000},"score":1,"resource":{"primary":{"URL":"http:\/\/ecerm.org\/journal\/view.php?doi=10.5653\/cerm.2025.09019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,18]]},"references-count":0,"URL":"https:\/\/doi.org\/10.5653\/cerm.2025.09019","relation":{},"ISSN":["2233-8233","2233-8241"],"issn-type":[{"value":"2233-8233","type":"print"},{"value":"2233-8241","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,18]]},"assertion":[{"value":"2025-11-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-18","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}}]}}