{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T04:04:27Z","timestamp":1790395467864,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T00:00:00Z","timestamp":1716163200000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Infertility is defined as the failure to achieve pregnancy after one year of unprotected intercourse within a marital relationship. Approximately 10%\u201315% of couples worldwide experience infertility issues, with nearly half of these cases attributed to male factors. Among men with unexplained infertility, genetic mutations have been identified as a potential cause. Studies have indicated that mutations affecting the function of the protein encoded by the <jats:italic>ACTL9<\/jats:italic> gene may play a role in male infertility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The purpose of this research was to identify mutations in the <jats:italic>ACTL9<\/jats:italic> gene associated with male infertility in a sample of 40 infertile men with unknown causes. Genomic DNA extraction and PCR amplification were carried out on samples from each individual. The genetic material was then analyzed using Sanger sequencing, followed by bioinformatics and segregation analysis to determine the potential effects of the observed variations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>A novel genetic variant, c.376G&gt;A (p.Glu126Lys), was identified in an infertile male individual, representing a previously unreported finding that was validated through segregation analyses. This specific variant induces a change from glutamate to lysine at the amino acid level by replacing the nucleotide G with A in the genomic DNA sequence, consequently impacting the secondary structure and function of the protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The conclusive analysis of the procedure indicated that this alteration has the potential to interfere with the process of fertilization, ultimately resulting in the complete failure of fertilization (TFF) and causing male infertility.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2448","type":"journal-article","created":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T06:59:35Z","timestamp":1716274775000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a new mutation in the <i>ACTL9<\/i> gene in men with unexplained infertility"],"prefix":"10.1002","volume":"12","author":[{"given":"Roya","family":"Sinaei","sequence":"first","affiliation":[{"name":"Department of Genetics, Faculty of Advanced Science and Technology Tehran Medical Sciences, Islamic Azad University  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Eslami","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Advanced Science and Technology Tehran Medical Sciences, Islamic Azad University  Tehran Iran"},{"name":"Applied Biotechnology Research Center, Tehran Medical Sciences Islamic Azad University  Tehran Iran"},{"name":"International Faculty Tehran Medical Sciences, Islamic Azad University  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Dadfar","sequence":"additional","affiliation":[{"name":"Department of Urology, Imam Khomeini Hospital, School of Medicine Ahvaz Jundishapur University of Medical Sciences  Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4360-9118","authenticated-orcid":false,"given":"Alihossein","family":"Saberi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Ahvaz Jundishapur University of Medical Sciences  Ahvaz Iran"},{"name":"Cellular and Molecular Research Center Ahvaz Jundishapur University of Medical Sciences  Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,20]]},"reference":[{"key":"e_1_2_11_2_1","unstructured":"ACTL9 GeneActin Like 9 [Internet]. GeneCardsSuite.https:\/\/www.genecards.org\/cgi\u2010bin\/carddisp.pl?gene=ACTL9"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbior.2013.07.005"},{"key":"e_1_2_11_4_1","unstructured":"American Urological Association. (2020).Report on vericocele and infertility.https:\/\/www.auanet.org\/guidelines\u2010and\u2010quality\/guidelines\/male\u2010infertility"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2017.12.005"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5848"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.02.004"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deab130.567"},{"key":"e_1_2_11_9_1","unstructured":"Division of Reproductive HealthNational Center for Chronic Disease Prevention and Health Promotion. Infertility FAQs. Retrieved April 26 2023 fromhttp:\/\/www.cdc.gov\/reproductivehealth\/infertility"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.reprotox.2006.04.016"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/excr.2002.5603"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrd.10276"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.4103\/0974-1208.170370"},{"key":"e_1_2_11_14_1","volume-title":"International Classification of Diseases, 11th Revision (ICD\u201011","author":"World Health Organization (WHO","year":"2018"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2448","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T12:32:44Z","timestamp":1716899564000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2448"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/mgg3.2448"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2448","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"2023-11-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2448"}}