{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T07:50:10Z","timestamp":1775634610021,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The <jats:italic>KHDC3L<\/jats:italic> gene encodes a component of the subcortical maternal complex (SCMC). Biallelic mutations in this gene cause 5%\u201310% of biparental hydatidiform moles (BiHM), and a few maternal deletions in <jats:italic>KHDC3L<\/jats:italic> have been identified in women with recurrent pregnancy loss (RPL).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>In this study, we had a patient with a history of 10 pregnancy or neonatal losses, including spontaneous abortions, neonatal deaths, and molar pregnancy. Whole\u2010exome sequencing (WES) was performed for genetic diagnostic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found a homozygous deleterious variant in the start codon of <jats:italic>KHDC3L<\/jats:italic> (c. 1A&gt;G, p.M1V), which probably results in non\u2010translation or the production of a truncated protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of a maternal loss\u2010of\u2010function variant in <jats:italic>KHDC3L<\/jats:italic> gene in a patient experiencing various types of pregnancy loss. This case report broadens the understanding of <jats:italic>KHDC3L<\/jats:italic>'s pathogenic variants and phenotypic spectrum, consistent with its crucial role during human pre\u2010 and post\u2010implantation development.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70051","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T06:40:02Z","timestamp":1736232002000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Maternal Loss\u2010of\u2010Function Variant in <scp><i>KHDC3L<\/i><\/scp> Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report"],"prefix":"10.1002","volume":"13","author":[{"given":"Zahra","family":"Anvar","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Baylor College of Medicine  Houston Texas USA"},{"name":"Duncan Neurological Research Institute Texas Children's Hospital  Houston Texas 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Biophysics (IGB), \u201cAdriano Buzzati\u2010Traverso\u201d Consiglio Nazionale Delle Ricerche (CNR)  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Hossein","family":"Nasr\u2010Esfahani","sequence":"additional","affiliation":[{"name":"Department of Animal Biotechnology, Reproductive Biomedicine Research Center Royan Institute for Biotechnology, ACECR  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6147-6553","authenticated-orcid":false,"given":"Maria Vittoria","family":"Cubellis","sequence":"additional","affiliation":[{"name":"Department of Biology Universit\u00e0 Degli Studi Di Napoli \u201cFederico II\u201d  Naples 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