{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T15:53:03Z","timestamp":1790956383917,"version":"4.1.0"},"reference-count":40,"publisher":"Maad Rayan Publishing Company","content-domain":{"domain":["bi.tbzmed.ac.ir"],"crossmark-restriction":false},"short-container-title":["Bioimpacts"],"published-print":{"date-parts":[[2026,8,23]]},"abstract":"<jats:p>Introduction: Unexplained male infertility (UMI) refers to a situation where no underlying cause of male infertility is defined during investigations of the couple.  Methods: Whole exome sequencing (WES) was performed to identify variants associated with UMI in a consanguineous Iranian family. Results: WES revealed a rare homozygous missense variant (chr14:g.92088086C&gt;T; NM_024764.4:c.2126G&gt;A; p.Arg709Gln) located in the extracellular region of CATSPERB in three affected siblings. This mutation resulted in the substitution of arginine 709 (R) with glutamine (Q) and co-segregated with the phenotype in other available family members. The kinematic parameters of sperm motility indicated abnormal hyperactivated movement. In-silico protein stability analysis suggests that the Arg709Gln (R709Q) alteration reduces the stability of the CATSPERB protein, potentially compromising causing defects in the overall stability of the CatSper complex.  Conclusion: Our findings provide initial evidence supporting the involvement of CATSPERB variants in UMI. This is the first reported genetic variant within the CATSPERB gene associated with UMI.<\/jats:p>","DOI":"10.34172\/bi.31216","type":"journal-article","created":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:56:01Z","timestamp":1790952961000},"page":"31216","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identifying a\n                    <i>CATSPERB<\/i>\n                    Variants in unexplained male infertility through familial exome sequencing"],"prefix":"10.34172","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8298-2770","authenticated-orcid":true,"given":"Seyedeh Zahra","family":"Mousavi","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pegah","family":"Kouhi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vahid","family":"Esmaeili","sequence":"additional","affiliation":[{"name":"Department of Embryology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynab","family":"Rokhsattalab","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdolreza","family":"Esmaeilzadeh","sequence":"additional","affiliation":[{"name":"Department of Immunology, Zanjan University of Medical Sciences, Zanjan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navid","family":"Almadani","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2468-901X","authenticated-orcid":true,"given":"Bahram","family":"Mohammad Soltani","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7285-3155","authenticated-orcid":true,"given":"Mehdi","family":"Totonchi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"20123","published-online":{"date-parts":[[2026,8,23]]},"reference":[{"key":"R1","doi-asserted-by":"publisher","DOI":"10.1080\/19396368.2025.2469582"},{"key":"R2","doi-asserted-by":"publisher","DOI":"10.12775\/qs.2025.45.66516"},{"key":"R3","doi-asserted-by":"publisher","DOI":"10.3390\/genes10070522"},{"key":"R4","doi-asserted-by":"publisher","DOI":"10.5534\/wjmh.220069"},{"key":"R5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejcb.2022.151243"},{"key":"R6","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1718709"},{"key":"R7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2025.105871"},{"key":"R8","doi-asserted-by":"publisher","DOI":"10.7860\/jcdr\/2013\/6194.3585"},{"key":"R9","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2020.110951"},{"key":"R10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M701083200"},{"key":"R11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0003569"},{"key":"R12","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1579"},{"key":"R13","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dey377"},{"key":"R14","doi-asserted-by":"publisher","DOI":"10.4103\/0974-1208.121419"},{"key":"R15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.004"},{"key":"R16","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200991"},{"key":"R17","unstructured":"World Health Organization (WHO). WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction. Cambridge University Press; 1999."},{"key":"R18","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu170"},{"key":"R19","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"R20","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"R21","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"R22","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-15563-2"},{"key":"R23","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"R24","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.73"},{"key":"R25","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"},{"key":"R26","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth254"},{"key":"R27","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200405000-00012"},{"key":"R28","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/13.8.2139"},{"key":"R29","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi0313s48"},{"key":"R30","doi-asserted-by":"publisher","DOI":"10.1002\/pro.4582"},{"key":"R31","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03819-2"},{"key":"R32","doi-asserted-by":"publisher","DOI":"10.1107\/s0021889892009944"},{"key":"R33","doi-asserted-by":"publisher","DOI":"10.1002\/pro.4792"},{"key":"R34","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-7366-8_4"},{"key":"R35","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1008543"},{"key":"R36","doi-asserted-by":"publisher","DOI":"10.1093\/hropen\/hoaf040"},{"key":"R37","doi-asserted-by":"publisher","DOI":"10.1016\/j.reprotox.2025.108841"},{"key":"R38","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.108"},{"key":"R39","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-021-01088-4"},{"key":"R40","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dev243"}],"container-title":["BioImpacts"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/bi.tbzmed.ac.ir\/PDF\/bi-16-31216.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/bi.tbzmed.ac.ir\/PDF\/bi-16-31216.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:56:02Z","timestamp":1790952962000},"score":1,"resource":{"primary":{"URL":"https:\/\/bi.tbzmed.ac.ir\/Article\/bi-31216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,23]]},"references-count":40,"URL":"https:\/\/doi.org\/10.34172\/bi.31216","relation":{},"ISSN":["2228-5652","2228-5660"],"issn-type":[{"value":"2228-5652","type":"print"},{"value":"2228-5660","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,23]]},"assertion":[{"value":"Tabriz University of Medical Sciences","name":"journal_owner","label":"Journal Owner"},{"value":"Tabriz University of Medical Sciences","name":"journal_publisher","label":"Journal Publisher"},{"value":"2025-04-05","order":1,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}