{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T12:51:00Z","timestamp":1793019060041,"version":"4.5.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T00:00:00Z","timestamp":1724025600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T00:00:00Z","timestamp":1724025600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1038\/s10038-024-01288-9","type":"journal-article","created":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T06:37:15Z","timestamp":1724049435000},"page":"675-677","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family"],"prefix":"10.1038","volume":"69","author":[{"given":"Qi","family":"Fang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanxi","family":"Ran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinying","family":"Bi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianyong","family":"Di","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengqin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Binbin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,19]]},"reference":[{"key":"1288_CR1","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1001\/jama.2021.4788","volume":"326","author":"SA Carson","year":"2021","unstructured":"Carson SA, Kallen AN. Diagnosis and Management of Infertility: A Review. JAMA. 2021;326:65\u201376.","journal-title":"JAMA"},{"key":"1288_CR2","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1056\/NEJM198009253031309","volume":"303","author":"P Troen","year":"1980","unstructured":"Troen P, Oshima H. The male factor. N Engl J Med. 1980;303:751\u20132.","journal-title":"N Engl J Med"},{"key":"1288_CR3","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1038\/s41572-023-00459-w","volume":"9","author":"ML Eisenberg","year":"2023","unstructured":"Eisenberg ML, Esteves SC, Lamb DJ, Hotaling JM, Giwercman A, Hwang K, et al. Male infertility. Nat Rev Dis Prim. 2023;9:49.","journal-title":"Nat Rev Dis Prim"},{"key":"1288_CR4","doi-asserted-by":"publisher","first-page":"3264","DOI":"10.3390\/ijms22063264","volume":"22","author":"F Cioppi","year":"2021","unstructured":"Cioppi F, Rosta V, Krausz C. Genetics of Azoospermia. Int J Mol Sci. 2021;22:3264.","journal-title":"Int J Mol Sci"},{"key":"1288_CR5","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1007\/s00439-022-02515-z","volume":"142","author":"Q Meng","year":"2023","unstructured":"Meng Q, Shao B, Zhao D, Fu X, Wang J, Li H, et al. Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans. Hum Genet. 2023;142:531\u201341.","journal-title":"Hum Genet"},{"key":"1288_CR6","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1093\/humupd\/dmaa034","volume":"27","author":"SY Jiao","year":"2021","unstructured":"Jiao SY, Yang YH, Chen SR. Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout\/mutated mice. Hum Reprod Update. 2021;27:154\u201389.","journal-title":"Hum Reprod Update"},{"key":"1288_CR7","doi-asserted-by":"publisher","first-page":"4009","DOI":"10.3390\/jcm10174009","volume":"10","author":"C Krausz","year":"2021","unstructured":"Krausz C, Cioppi F. Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients\u2019 and Offspring Health. J Clin Med. 2021;10:4009.","journal-title":"J Clin Med"},{"key":"1288_CR8","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1016\/j.ajhg.2022.01.011","volume":"109","author":"ZE Kherraf","year":"2022","unstructured":"Kherraf ZE, Cazin C, Bouker A, Fourati Ben Mustapha S, Hennebicq S, Septier A, et al. Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia. Am J Hum Genet. 2022;109:508\u201317.","journal-title":"Am J Hum Genet"},{"key":"1288_CR9","doi-asserted-by":"publisher","DOI":"10.1002\/bies.201800235","volume":"41","author":"A Arbel-Eden","year":"2019","unstructured":"Arbel-Eden A, Simchen G. Elevated Mutagenicity in Meiosis and Its Mechanism. Bioessays. 2019;41:e1800235.","journal-title":"Bioessays"},{"key":"1288_CR10","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.741355","volume":"12","author":"Z Ji","year":"2021","unstructured":"Ji Z, Yao C, Yang C, Huang C, Zhao L, Han X, et al. Novel Hemizygous Mutations of TEX11 Cause Meiotic Arrest and Non-obstructive Azoospermia in Chinese Han Population. Front Genet. 2021;12:741355.","journal-title":"Front Genet"},{"key":"1288_CR11","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1262\/jrd.19186","volume":"54","author":"K Akiyama","year":"2008","unstructured":"Akiyama K, Akimaru S, Asano Y, Khalaj M, Kiyosu C, Masoudi AA, et al. A new ENU-induced mutant mouse with defective spermatogenesis caused by a nonsense mutation of the syntaxin 2\/epimorphin (Stx2\/Epim) gene. J Reprod Dev. 2008;54:122\u20138.","journal-title":"J Reprod Dev"},{"key":"1288_CR12","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1095\/biolreprod.112.107110","volume":"88","author":"Y Fujiwara","year":"2013","unstructured":"Fujiwara Y, Ogonuki N, Inoue K, Ogura A, Handel MA, Noguchi J, et al. t-SNARE Syntaxin2 (STX2) is implicated in intracellular transport of sulfoglycolipids during meiotic prophase in mouse spermatogenesis. Biol Reprod. 2013;88:141.","journal-title":"Biol Reprod"},{"key":"1288_CR13","doi-asserted-by":"publisher","first-page":"1535","DOI":"10.1172\/JCI25442","volume":"116","author":"Y Wang","year":"2006","unstructured":"Wang Y, Wang L, Iordanov H, Swietlicki EA, Zheng Q, Jiang S, et al. Epimorphin(-\/-) mice have increased intestinal growth, decreased susceptibility to dextran sodium sulfate colitis, and impaired spermatogenesis. J Clin Invest. 2006;116:1535\u201346.","journal-title":"J Clin Invest"},{"key":"1288_CR14","doi-asserted-by":"publisher","first-page":"4227","DOI":"10.1073\/pnas.032068299","volume":"99","author":"K Honke","year":"2002","unstructured":"Honke K, Hirahara Y, Dupree J, Suzuki K, Popko B, Fukushima K, et al. Paranodal junction formation and spermatogenesis require sulfoglycolipids. Proc Natl Acad Sci USA. 2002;99:4227\u201332.","journal-title":"Proc Natl Acad Sci USA"},{"key":"1288_CR15","doi-asserted-by":"publisher","first-page":"22623","DOI":"10.1074\/jbc.C000200200","volume":"275","author":"H Fujimoto","year":"2000","unstructured":"Fujimoto H, Tadano-Aritomi K, Tokumasu A, Ito K, Hikita T, Suzuki K, et al. Requirement of seminolipid in spermatogenesis revealed by UDP-galactose: Ceramide galactosyltransferase-deficient mice. J Biol Chem. 2000;275:22623\u20136.","journal-title":"J Biol Chem"},{"key":"1288_CR16","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1002\/humu.23423","volume":"39","author":"S Nakamura","year":"2018","unstructured":"Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, et al. STX2 is a causative gene for nonobstructive azoospermia. Hum Mutat. 2018;39:830\u20133.","journal-title":"Hum Mutat"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s10038-024-01288-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-024-01288-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-024-01288-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T00:02:45Z","timestamp":1732665765000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-024-01288-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,19]]},"references-count":16,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["1288"],"URL":"https:\/\/doi.org\/10.1038\/s10038-024-01288-9","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,19]]},"assertion":[{"value":"27 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 July 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 August 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 August 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"We adhered to the Code of Ethics of the World Medical Association (Declaration of Helsinki, revised in 2013), and the ethical committee of the National Research Institute for Family Planning approved this study. All family members participating in this study signed informed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}]}}