{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T15:42:27Z","timestamp":1779896547372,"version":"3.53.1"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,4,23]],"date-time":"2020-04-23T00:00:00Z","timestamp":1587600000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003995","name":"Natural Science Foundation of Anhui Province","doi-asserted-by":"publisher","award":["1908085J28"],"award-info":[{"award-number":["1908085J28"]}],"id":[{"id":"10.13039\/501100003995","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31970793"],"award-info":[{"award-number":["31970793"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Empty follicle syndrome (EFS) is a rare but severe condition in which no oocyte is recovered in female patients undergoing in vitro fertilization (IVF) after sufficient ovarian response to hormonal trigger. Accumulating evidence highlights the genetic basis of EFS occurrence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we report a patient with primary infertility showing the characteristics of EFS from a consanguineous family. Under the treatment of assisted reproductive technique (ART), no oocyte was retrieved following the aspiration of mature follicles. Through whole\u2010exome sequencing (WES), we discovered a novel recessively transmitted mutation in <jats:italic>ZP1<\/jats:italic> (c.769 C&gt;T, p. Q257*).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In vitro Co\u2010immunoprecipitation assays showed that mutant ZP1 protein failed to interact with either ZP2 or ZP3, which explains the degenerated oocytes in the patient with EFS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Together, our data further expand the spectrum of <jats:italic>ZP1<\/jats:italic> mutations that are associated with human EFS and thus provide novel insight into the diagnosis of EFS patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1269","type":"journal-article","created":{"date-parts":[[2020,4,24]],"date-time":"2020-04-24T04:09:58Z","timestamp":1587701398000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["A novel homozygous nonsense <i>ZP1<\/i> variant causes human female infertility associated with empty follicle syndrome (EFS)"],"prefix":"10.1002","volume":"8","author":[{"given":"Qianhua","family":"Xu","sequence":"first","affiliation":[{"name":"Reproductive Medicine Center Department of Obstetrics and Gynecology the First Affiliated Hospital of Anhui Medical University Hefei China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Hefei China"},{"name":"Anhui Province Key Laboratory of Reproductive Health and Genetics Anhui Medical University Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Zhu","sequence":"additional","affiliation":[{"name":"Division of Life Sciences and Medicine The First Affiliated Hospital of USTC University of Science and Technology of China Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madiha","family":"Maqsood","sequence":"additional","affiliation":[{"name":"Division of Life Sciences and Medicine The First Affiliated Hospital of USTC University of Science and Technology of China Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenqing","family":"Li","sequence":"additional","affiliation":[{"name":"Division of Life Sciences and Medicine The First Affiliated Hospital of USTC University of Science and Technology of China Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianhong","family":"Tong","sequence":"additional","affiliation":[{"name":"Division of Life Sciences and Medicine The First Affiliated Hospital of USTC University of Science and Technology of China Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuai","family":"Kong","sequence":"additional","affiliation":[{"name":"School of Life Science Anhui Medical University Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengsong","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Life Science Anhui Medical University Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoman","family":"Liu","sequence":"additional","affiliation":[{"name":"Division of Life Sciences and Medicine The First Affiliated Hospital of USTC University of Science and Technology of China Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaolian","family":"Wei","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center Department of Obstetrics and Gynecology the First Affiliated Hospital of Anhui Medical University Hefei China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Hefei China"},{"name":"Anhui Province Key Laboratory of Reproductive Health and Genetics Anhui Medical University Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiguo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center Department of Obstetrics and Gynecology the First Affiliated Hospital 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China"},{"name":"NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Hefei China"},{"name":"Anhui Province Key Laboratory of Reproductive Health and Genetics Anhui Medical University Hefei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1248-2687","authenticated-orcid":false,"given":"Jianqiang","family":"Bao","sequence":"additional","affiliation":[{"name":"Division of Life Sciences and Medicine The First Affiliated Hospital of USTC University of Science and Technology of China Anhui 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