{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T09:27:43Z","timestamp":1793698063946,"version":"4.5.1"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T00:00:00Z","timestamp":1787702400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T00:00:00Z","timestamp":1787702400000},"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 Assist Reprod Genet"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1007\/s10815-026-04007-9","type":"journal-article","created":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T08:03:01Z","timestamp":1787731381000},"page":"2947-2961","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel biallelic PATL2 variants causing predominant germinal vesicle arrest and recurrent ART failure: expanded mutational spectrum and evidence-based reproductive counseling guidance"],"prefix":"10.1007","volume":"43","author":[{"given":"Xin-jie","family":"Zhuang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-liang","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Zhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,8,26]]},"reference":[{"key":"4007_CR1","doi-asserted-by":"publisher","DOI":"10.1080\/0167482X.2025.2459618","author":"Y Wei","year":"1990","unstructured":"Wei Y, Lin ZY, Huang QY, Wu H, Wang R, Wang JL. Burden of female infertility in 204 countries and territories, 1990-2021: results from the Global Burden of Disease Study 2021. J Psychosom Obstet Gynaecol. 1990. https:\/\/doi.org\/10.1080\/0167482X.2025.2459618.","journal-title":"J Psychosom Obstet Gynaecol"},{"issue":"4","key":"4007_CR2","doi-asserted-by":"publisher","first-page":"E58","DOI":"10.1016\/j.fertnstert.2022.08.183","volume":"118","author":"M Esbert","year":"2022","unstructured":"Esbert M, Reig A, Pangasnan R, Ballesteros A, Seli E. Oocyte maturation defect in women undergoing IVF: contributing factors and effects on mature sibling oocyte outcomes. Fertil Steril. 2022;118(4):E58\u20139.","journal-title":"Fertil Steril"},{"key":"4007_CR3","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.628649","volume":"9","author":"QQ Cao","year":"2021","unstructured":"Cao QQ, Zhao C, Wang CJ, Cai LB, Xia M, Zhang XL, et al. The recurrent mutation in PATL2 inhibits its degradation thus causing female infertility characterized by oocyte maturation defect through regulation of the Mos-MAPK pathway. Front Cell Dev Biol. 2021;9:628649.","journal-title":"Front Cell Dev Biol"},{"issue":"11","key":"4007_CR4","doi-asserted-by":"crossref","first-page":"2004","DOI":"10.3390\/genes13112004","volume":"13","author":"OA Solovova","year":"2022","unstructured":"Solovova OA, Chernykh VB. Genetics of oocyte maturation defects and early embryo development arrest. Genes-Basel. 2022;13(11):2004.","journal-title":"Genes-Basel"},{"issue":"6","key":"4007_CR5","doi-asserted-by":"publisher","first-page":"1813","DOI":"10.1007\/s43032-025-01844-4","volume":"32","author":"D Li","year":"2025","unstructured":"Li D, Yuan GH, Wang XX, Zhuang J, Wang L, Liu YX, et al. Three novel mutations in TUBB8 cause female infertility due to multiple morphological abnormalities of the oocyte and early embryo. Reprod Sci. 2025;32(6):1813\u201324.","journal-title":"Reprod Sci"},{"key":"4007_CR6","doi-asserted-by":"publisher","first-page":"3045","DOI":"10.2147\/IJWH.S545145","volume":"17","author":"ZHM Al-Gawwam","year":"2025","unstructured":"Al-Gawwam ZHM, Abdulhussein RH, Abed HS, Wei WG, Cai ML. Association of WEE2 gene polymorphism with fertilization failure in women undergoing intracytoplasmic sperm injection. Int J Womens Health. 2025;17:3045\u201353.","journal-title":"Int J Womens Health"},{"issue":"2","key":"4007_CR7","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1111\/cge.14624","volume":"107","author":"P He","year":"2025","unstructured":"He P, Liu SP, Shi X, Huang CY, Li WF, Wu JM, et al. A novel homozygous missense ZP1 variant result in human female empty follicle syndrome. Clin Genet. 2025;107(2):147\u201356.","journal-title":"Clin Genet"},{"issue":"11-12","key":"4007_CR8","doi-asserted-by":"publisher","first-page":"1489","DOI":"10.1007\/s00439-017-1844-1","volume":"136","author":"S Barbaux","year":"2017","unstructured":"Barbaux S, El Khattabi L, Ziyyat A. ZP2 heterozygous mutation in an infertile woman. Hum Genet. 2017;136(11\u201312):1489\u201391.","journal-title":"Hum Genet"},{"issue":"4","key":"4007_CR9","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1007\/s00439-019-01990-1","volume":"138","author":"Z Zhou","year":"2019","unstructured":"Zhou Z, Ni CX, Wu L, Chen BB, Xu Y, Zhang ZH, et al. Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation. Hum Genet. 2019;138(4):327\u201337.","journal-title":"Hum Genet"},{"issue":"1","key":"4007_CR10","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.ajhg.2020.05.010","volume":"107","author":"W Zheng","year":"2020","unstructured":"Zheng W, Zhou Z, Sha QQ, Niu XL, Sun XX, Shi JZ, et al. Homozygous mutations in BTG4 cause zygotic cleavage failure and female infertility. Am J Hum Genet. 2020;107(1):24\u201333.","journal-title":"Am J Hum Genet"},{"issue":"5","key":"4007_CR11","doi-asserted-by":"publisher","first-page":"2135","DOI":"10.3390\/ijms27052135","volume":"27","author":"JN Jiang","year":"2026","unstructured":"Jiang JN, Peng JH, Li L, Xu M. Genetic mutations and non-genomic dysregulation in human preimplantation embryo arrest. Int J Mol Sci. 2026;27(5):2135.","journal-title":"Int J Mol Sci"},{"issue":"1","key":"4007_CR12","doi-asserted-by":"publisher","DOI":"10.1080\/09513590.2025.2451672","volume":"41","author":"GZ Jiao","year":"2025","unstructured":"Jiao GZ, Xing JH, Du ZL, Bao HC, Liu XY. Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality. Gynecol Endocrinol. 2025;41(1):2451672.","journal-title":"Gynecol Endocrinol"},{"key":"4007_CR13","doi-asserted-by":"publisher","first-page":"1716251","DOI":"10.3389\/fmed.2025.1716251","volume":"12","author":"B Yuan","year":"2025","unstructured":"Yuan B, Xu T, Luo BB, Lu ZQ, Mao JB, Wang XM, et al. Identification of a novel TLE6 mutation linked to embryonic arrest and limited rescue by mRNA supplementation. Front Med-Lausanne. 2025;12:1716251.","journal-title":"Front Med-Lausanne"},{"issue":"Suppl 1","key":"4007_CR14","first-page":"293a","volume":"28","author":"B Rodriguez-Alonso","year":"2021","unstructured":"Rodriguez-Alonso B, Cakmak H, Rajkovic A. Novel compound heterozygous variants in PATL2 associate with oocyte meiotic arrest. Reprod Sci. 2021;28(Suppl 1):293a\u2013293a.","journal-title":"Reprod Sci"},{"issue":"1","key":"4007_CR15","doi-asserted-by":"publisher","DOI":"10.1002\/ctm2.70193","volume":"15","author":"H Luo","year":"2025","unstructured":"Luo H, Chen JH, Li C, Wu T, Yin SY, Yang GP, et al. Pathogenic variants of TUBB8 cause oocyte spindle defects by disrupting with EB1\/CAKP5 interactions and potential treatment targeting microtubule acetylation through HDAC6 inhibition. Clin Transl Med. 2025;15(1):e70193.","journal-title":"Clin Transl Med"},{"issue":"2","key":"4007_CR16","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1093\/biolre\/ioaa097","volume":"103","author":"CB Hanna","year":"2020","unstructured":"Hanna CB, Mudaliar D, John K, Allen CL, Sun LX, Hawkinson JE, et al. Development of WEE2 kinase inhibitors as novel non-hormonal female contraceptives that target meiosis. Biol Reprod. 2020;103(2):368\u201377.","journal-title":"Biol Reprod"},{"issue":"Supp 1","key":"4007_CR17","doi-asserted-by":"publisher","first-page":"S142","DOI":"10.1093\/ajcp\/aqac126.301","volume":"158","author":"D Upadhyay","year":"2022","unstructured":"Upadhyay D, Anandt S, Peramo B, Al Safar H. Detection of putative novel mutation in Zp1 gene causing empty follicle syndrome. Am J Clin Pathol. 2022;158(Supp 1):S142\u2013S142.","journal-title":"Am J Clin Pathol"},{"key":"4007_CR18","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/j.ydbio.2026.04.019","volume":"536","author":"S Sadhukhan","year":"2026","unstructured":"Sadhukhan S, Pramanick K. Role of zygotic arrest genes in female meiosis and early embryonic development. Dev Biol. 2026;536:32\u201340.","journal-title":"Dev Biol"},{"issue":"7","key":"4007_CR19","doi-asserted-by":"publisher","first-page":"1930","DOI":"10.1007\/s43032-021-00524-3","volume":"28","author":"LL Huang","year":"2021","unstructured":"Huang LL, Wang FS, Kong S, Wang Y, Song GJ, Lu FT, et al. Novel mutations in TUBB8 are associated with female infertility due to oocyte maturation abnormality and early embryonic arrest. Reprod Sci. 2021;28(7):1930\u20138.","journal-title":"Reprod Sci"},{"key":"4007_CR20","doi-asserted-by":"publisher","DOI":"10.1155\/2024\/9278518","author":"RQ Li","year":"2024","unstructured":"Li RQ, Mei M, Zhou L, Zhao HJ, Yang M, Li YS, et al. Biallelic recessive mutations in TLE6 and NLRP5 cause female infertility characterized by human early embryonic arrest. Hum Mutat. 2024. https:\/\/doi.org\/10.1155\/2024\/9278518.","journal-title":"Hum Mutat"},{"issue":"12","key":"4007_CR21","doi-asserted-by":"publisher","DOI":"10.1242\/dev.201572","volume":"150","author":"ZH Zhang","year":"2023","unstructured":"Zhang ZH, Liu RY, Zhou HB, Li Q, Qu RG, Wang WJ, et al. PATL2 regulates mRNA homeostasis in oocytes by interacting with EIF4E and CPEB1. Development. 2023;150(12):dev201572.","journal-title":"Development"},{"issue":"4","key":"4007_CR22","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1016\/j.ajhg.2017.08.018","volume":"101","author":"BB Chen","year":"2017","unstructured":"Chen BB, Zhang ZH, Sun XX, Kuang YP, Mao XY, Wang XQ, et al. Biallelic mutations in PATL2 cause female infertility characterized by oocyte maturation arrest. Am J Hum Genet. 2017;101(4):609\u201315.","journal-title":"Am J Hum Genet"},{"issue":"12","key":"4007_CR23","doi-asserted-by":"publisher","first-page":"3132","DOI":"10.7150\/ijms.109085","volume":"22","author":"XT Yang","year":"2025","unstructured":"Yang XT, Shi XR, Wang J, Guo JY, Huang YH, Tang P, et al. Novel genetic variants in TUBB8 corresponding to different clinical phenotypes of female infertility. Int J Med Sci. 2025;22(12):3132\u201341.","journal-title":"Int J Med Sci"},{"key":"4007_CR24","volume":"40","author":"AL Yu","year":"2024","unstructured":"Yu AL, Huang ZQ, Shi H, Lin YY, Cai XF, Ke ZH, et al. Identification of a novel mutation in PATL2 gene associated with the germinal vesicle arrest of oocytes. Biochem Biophys Rep. 2024;40:101962.","journal-title":"Biochem Biophys Rep"},{"issue":"6","key":"4007_CR25","doi-asserted-by":"publisher","first-page":"1961","DOI":"10.1007\/s10815-025-03501-w","volume":"42","author":"HJ Zhao","year":"2025","unstructured":"Zhao HJ, Ouyang NY, Ou SB, Lin HY, Liao ZW, Liu WY, et al. Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest. J Assist Reprod Genet. 2025;42(6):1961\u201373.","journal-title":"J Assist Reprod Genet"},{"issue":"8","key":"4007_CR26","doi-asserted-by":"publisher","first-page":"1951","DOI":"10.1007\/s10815-024-03195-6","volume":"41","author":"WJ Wang","year":"2024","unstructured":"Wang WJ, Sang Q, Wang L. Genetic factors of oocyte maturation arrest: an important cause for recurrent IVF\/ICSI failures. J Assist Reprod Genet. 2024;41(8):1951\u20133.","journal-title":"J Assist Reprod Genet"},{"key":"4007_CR27","doi-asserted-by":"publisher","DOI":"10.3390\/ijms252313002","author":"GM Baldini","year":"2024","unstructured":"Baldini GM, Ferri D, Malvasi A, Lagan\u00e0 AS, Vimercati A, Dellino M, et al. Genetic abnormalities of oocyte maturation: mechanisms and clinical implications. Int J Mol Sci. 2024. https:\/\/doi.org\/10.3390\/ijms252313002.","journal-title":"Int J Mol Sci"},{"issue":"4","key":"4007_CR28","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1007\/s10815-020-01698-6","volume":"37","author":"ZX Liu","year":"2020","unstructured":"Liu ZX, Zhu LX, Wang JR, Luo G, Xi QS, Zhou XP, et al. Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest. J Assist Reprod Genet. 2020;37(4):841\u20137.","journal-title":"J Assist Reprod Genet"},{"issue":"12","key":"4007_CR29","doi-asserted-by":"publisher","first-page":"3337","DOI":"10.1007\/s10815-024-03260-0","volume":"41","author":"ZX Liu","year":"2024","unstructured":"Liu ZX, Zhu LX, He H, Hou MQ, Jia WM, Jin L, et al. Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure. J Assist Reprod Genet. 2024;41(12):3337\u201345.","journal-title":"J Assist Reprod Genet"},{"issue":"7","key":"4007_CR30","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1093\/humrep\/deag073","volume":"41","author":"AC Barber\u00e1n","year":"2026","unstructured":"Barber\u00e1n AC, Araftpoor E, Christodoulaki A, Fakhar-I-Adil M, Goethals J, Rybouchkin A, et al. Single-cell proteomics reveals cytoplasmic defects in Patl2-deficient oocytes rescued by spindle transfer. Hum Reprod. 2026;41(7):1115\u20131130. https:\/\/doi.org\/10.1093\/humrep\/deag073.","journal-title":"Hum Reprod"},{"key":"4007_CR31","doi-asserted-by":"crossref","unstructured":"Barber\u00e1n AC, Araftpoor E, Christodoulaki A, Fakhar-I-Adil M, Goethals J, Rybouchkin A, Arnoult C, B\u00fchler M, Boel A, Stoop D et al: Spindle transfer rescues impaired fertilization linked to Patl2-mediated dysregulation of maternal mRNA translation. Hum Reprod 2025, 40 (Suppl\u202f1):deaf097.294.","DOI":"10.1093\/humrep\/deaf097.294"},{"key":"4007_CR32","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2025.1611138","volume":"16","author":"HY Li","year":"2025","unstructured":"Li HY, Lin Y, Ma WX, Yu T, Dong LF, Chen YK, et al. Identification of a PATL2 missense variant (c.877G>T) disrupting canonical splicing and contributing to female infertility. Front Genet. 2025;16:1611138.","journal-title":"Front Genet"}],"container-title":["Journal of Assisted Reproduction and Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-026-04007-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10815-026-04007-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-026-04007-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T08:53:33Z","timestamp":1793696013000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10815-026-04007-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,26]]},"references-count":32,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["4007"],"URL":"https:\/\/doi.org\/10.1007\/s10815-026-04007-9","relation":{},"ISSN":["1058-0468","1573-7330"],"issn-type":[{"value":"1058-0468","type":"print"},{"value":"1573-7330","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,26]]},"assertion":[{"value":"27 June 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 August 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 August 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was approved by the Medical Ethics Committee of Peking University Third Hospital (Approval No.: IRB00006761-M2022001).All procedures complied with the Declaration of Helsinki. Written informed consent was obtained from all individual participants included in the study.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}]}}