{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T16:01:35Z","timestamp":1779292895311,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T00:00:00Z","timestamp":1626307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Oocytes have a lot of maternal RNAs and proteins, which are used by the early embryo before zygotic genome activation. Transducin\u2010like enhancer of split 6 (TLE6) is a component of a subcortical maternal complex which plays a critical role in early embryonic development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The patient had been diagnosed with primary infertility for 6\u00a0years and had undergone multiple failed in vitro fertilization (IVF)\/intracytoplasmic sperm injection (ICSI) cycles. Genomic DNA samples were extracted from her parents\u2019 peripheral blood as well as hers. Whole\u2010exome sequencing and Sanger validation were performed to identify candidate variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel transducin\u2010like enhancer of split 6 (<jats:italic>TLE6<\/jats:italic>) gene mutations in the female patient with recurrent IVF\/ICSI failure. The patient carried a homozygous mutation (NM_001143986.1(<jats:italic>TLE6<\/jats:italic>): c.541+1G&gt;A) and had viable but low\u2010quality embryos. Her parents both had heterozygous mutations at this locus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study expands the mutational and phenotypic spectrum of <jats:italic>TLE6<\/jats:italic> and suggests the important role of <jats:italic>TLE6<\/jats:italic> during embryonic development. Our findings have implications for the genetic diagnosis of female infertility with recurrent IVF\/ICSI failure.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1743","type":"journal-article","created":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T11:28:40Z","timestamp":1626348520000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A novel <i>TLE6<\/i> mutation, c.541+1G&gt;A, identified using whole\u2010exome sequencing in a Chinese family with female infertility"],"prefix":"10.1002","volume":"9","author":[{"given":"Bin","family":"Mao","sequence":"first","affiliation":[{"name":"The Reproductive Medicine Hospital of the First Hospital of Lanzhou University Lanzhou Gansu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueling","family":"Jia","sequence":"additional","affiliation":[{"name":"The Reproductive Medicine Hospital of the First Hospital of Lanzhou University Lanzhou Gansu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongfang","family":"Liu","sequence":"additional","affiliation":[{"name":"The Reproductive Medicine Hospital of the First Hospital of Lanzhou University Lanzhou Gansu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojuan","family":"Xu","sequence":"additional","affiliation":[{"name":"The Reproductive Medicine Hospital of the First Hospital of Lanzhou University Lanzhou Gansu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Zhao","sequence":"additional","affiliation":[{"name":"The Reproductive Medicine Hospital of the First Hospital of Lanzhou University Lanzhou Gansu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Yuan","sequence":"additional","affiliation":[{"name":"The Reproductive Medicine Hospital of the First Hospital of Lanzhou University Lanzhou Gansu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongxing","family":"Li","sequence":"additional","affiliation":[{"name":"The Reproductive Medicine Hospital of the First Hospital of Lanzhou University Lanzhou Gansu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoling","family":"Ma","sequence":"additional","affiliation":[{"name":"The Reproductive Medicine Hospital of the First Hospital of Lanzhou University Lanzhou Gansu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Zhang","sequence":"additional","affiliation":[{"name":"The Reproductive Medicine Hospital of the First Hospital of Lanzhou University Lanzhou Gansu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-015-0792-0"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12861-014-0040-y"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000092"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.17.5935-5945.2001"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.113.112565"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-213X-8-81"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00000838"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.07.010"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.24.10916-10929.2005"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms3956"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5887"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.21680"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gau116"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1743","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1743","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1743","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T17:46:46Z","timestamp":1693331206000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1743"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,15]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/mgg3.1743"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1743","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,15]]},"assertion":[{"value":"2020-12-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1743"}}