{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T23:43:18Z","timestamp":1782776598660,"version":"3.54.5"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,1,10]],"date-time":"2023-01-10T00:00:00Z","timestamp":1673308800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> The <jats:italic>PADI6<\/jats:italic> gene is a component of the subcortical maternal effect complex (SCMC). Mutations in the <jats:italic>PADI6<\/jats:italic> gene, which was the first gene discovered to impact the activation process of the human embryonic genome, have been shown to induce early embryo arrest.<\/jats:p><jats:p><jats:bold>Case:<\/jats:bold> A 29-year-old lady with primary infertility underwent <jats:italic>in vitro<\/jats:italic> fertilization embryo transfer (IVF-ET) for tubal reasons, who had normal hormone levels and ovarian reserve. A Progestin-Primed Ovarian Stimulation (PPOS) protocol of Ovarian stimulation with IVF was performed. The total of Gonadotropin (Gn) stimulation with u-FSH was 2100 IU, which lasted for 10\u00a0days. When three follicles measuring less than 18\u00a0mm in diameter were seen, r-hCG 250\u00a0ug and triptorelin acetate 0.2\u00a0mg were injected to trigger oocyte maturation. Nineteen oocytes (including thirteen MII oocytes) were picked up 37\u00a0h after the trigger, and seven of these were normal fertilized. Unfortunately, these many embryos were stopped at the 1- or 2-cell stage, hence this infertile patient\u2019s IVF treatment won't result in an embryo transfer. Using whole-exome sequencing, a complex heterozygous mutation in <jats:italic>PADI6<\/jats:italic> was discovered: c. 1247T&amp;gt;C [p.Ile416Thr] in exon 12 of <jats:italic>PADI6<\/jats:italic>, and c. 2009_2010del [p.Glu670GlyfsTer48] in exon 17 of <jats:italic>PADI6<\/jats:italic>.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> We found a complex heterozygous mutation in the <jats:italic>PADI6<\/jats:italic> gene (c. 1247T&amp;gt;C; c. 2009_2010del) that caused embryos were arrested at the 1- or 2- cell stage. The discovery in this patient adds to the evidence showing the PADI6 gene mutation causes early embryo arrest in humans.<\/jats:p>","DOI":"10.3389\/fgene.2022.1104085","type":"journal-article","created":{"date-parts":[[2023,1,10]],"date-time":"2023-01-10T19:36:04Z","timestamp":1673379364000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["A complex heterozygous mutation in PADI6 causes early embryo arrest: A case report"],"prefix":"10.3389","volume":"13","author":[{"given":"Ting","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guanfeng","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuijuan","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,1,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1270","DOI":"10.1093\/humrep\/der037","article-title":"The istanbul consensus workshop on embryo assessment: proceedings of an expert meeting","volume":"26","year":"2011","journal-title":"Hum. 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