{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T05:16:42Z","timestamp":1792300602426,"version":"4.4.0"},"reference-count":39,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T00:00:00Z","timestamp":1689638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","award":["ZR2020QH047"],"award-info":[{"award-number":["ZR2020QH047"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>The genetic basis of empty follicle syndrome (EFS) is largely unknown, and the aim of this study was to investigate the genetic causes of EFS in primary infertile women.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four affected women diagnosed with anovulation were recruited, and whole exome sequencing (WES) was requested for the genetic diagnosis of the cases. One hundred healthy controls were verified by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel homozygous variant of the <jats:italic>LHCGR<\/jats:italic> gene (NM_000233:c.1847C&gt;A) was revealed in one affected individual by WES. Trios analysis of the mutation revealed an autosomal recessive pattern. This <jats:italic>LHCGR<\/jats:italic> variant was absent in 100 healthy controls and predicted to be highly damaging to the function of <jats:italic>LHCGR<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The novel variant extends the mutational spectrum of the <jats:italic>LHCGR<\/jats:italic> gene associated with female sterility, which promotes the prognostic value of testing for <jats:italic>LHCGR<\/jats:italic> mutations in infertile women with EFS.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jog.15747","type":"journal-article","created":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T09:00:02Z","timestamp":1689670802000},"page":"2436-2445","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Whole exome sequencing identifies a novel homozygous missense mutation of <scp><i>LHCGR<\/i><\/scp> gene in primary infertile women with empty follicle syndrome"],"prefix":"10.1111","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3356-5422","authenticated-orcid":false,"given":"Yang","family":"Xu","sequence":"first","affiliation":[{"name":"Center for Reproductive Medicine, Department of Obstetrics and Gynecology Qilu Hospital of Shandong University  Jinan China"},{"name":"Department of Reproductive Medicine Linyi People's Hospital, Shandong University  Linyi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enhua","family":"Wang","sequence":"additional","affiliation":[{"name":"Teaching and Research Office of Medical Genetics Shandong Medical College  Linyi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianfeng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Linyi People's Hospital  Linyi 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