{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T22:59:51Z","timestamp":1790204391712,"version":"4.1.0"},"reference-count":9,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:00:00Z","timestamp":1790208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000061","name":"Fogarty International Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000061","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019751","name":"JSS Academy of Higher Education and Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019751","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Oocyte maturation arrest (OMA) is a rare cause of female infertility characterized by impaired oocyte maturation and recurrent failure of assisted reproductive technologies. Recent studies have identified\n                    <jats:italic>DLGAP5<\/jats:italic>\n                    as a critical regulator of meiotic spindle assembly, with biallelic variants causing oocyte maturation defects and early embryonic arrest. Till date, 10 females from seven families have been reported. We report a 27-year-old Asian - Indian woman from a consanguineous family with 5\u00a0years of primary infertility and two IVF cycles characterized by poor metaphase II (MII) oocyte yield and complete blastocyst arrest. Whole-exome sequencing identified a novel canonical splice-acceptor variant, c.2064-1G&amp;gt;A, in homozygous state in\n                    <jats:italic>DLGAP5<\/jats:italic>\n                    . Segregation analysis confirmed heterozygous carrier status in both parents, whereas the variant was absent from the apparently healthy male sibling. This report expands the mutational spectrum of\n                    <jats:italic>DLGAP5<\/jats:italic>\n                    and highlights the value of genomic testing in women with recurrent IVF failure and an OMA-like embryology phenotype.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1963011","type":"journal-article","created":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T22:10:20Z","timestamp":1790201420000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel homozygous DLGAP5 splice-site variant in a woman with oocyte maturation arrest and recurrent IVF failure: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Prince","family":"Jacob","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, JSS Medical College, JSS Academy of Higher Education Research","place":["Mysuru, Karnataka, India"]},{"name":"Department of Genetics, Yale School of Medicine","place":["New Haven, CT, United States"]},{"name":"Public Health Research Institute of India (PHRII)","place":["Mysuru, Karnataka, India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepa","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Anatomy, JSS Medical College, JSS Academy of Higher Education and Research","place":["Mysuru, Karnataka, India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adithya G.","family":"Urs","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, JSS Medical College, JSS Academy of Higher Education Research","place":["Mysuru, Karnataka, India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uma","family":"Maheshwari","sequence":"additional","affiliation":[{"name":"Consultant Fertility Specialist, Fertility Centre - Cloud Nine Hospital","place":["Jayanagar Bengaluru, India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddaramappa Jagadish","family":"Patil","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Narayana Hrudayalaya Hospitals \/ Mazumdar Shaw Medical Centre","place":["Bangalore, India"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,24]]},"reference":[{"key":"B2","doi-asserted-by":"publisher","first-page":"101012","DOI":"10.1016\/j.xgen.2025.101012","article-title":"Genetic landscape of human oocyte\/embryo defects","volume":"6","author":"Chen","year":"2026","journal-title":"Cell Genomics"},{"key":"B3","doi-asserted-by":"publisher","first-page":"2008","DOI":"10.1093\/humrep\/deaf158","article-title":"Biallelic variants in DLGAP5 cause spindle assembly defects and human early embryonic arrest","volume":"40","author":"Hu","year":"2025","journal-title":"Hum. Reprod."},{"key":"B4","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1186\/s13073-023-01231-1","article-title":"Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos","volume":"15","author":"McCoy","year":"2023","journal-title":"Genome Med."},{"key":"B5","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1097\/rd9.0000000000000095","article-title":"Genetic factors of reproductive disorders in female","volume":"8","author":"Mordovina","year":"2024","journal-title":"Reproductive Dev. Med."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1773","DOI":"10.1093\/humrep\/deaf139","article-title":"Pathogenic variants in DLGAP5 cause female infertility characterized by oocyte maturation arrest and embryonic arrest","volume":"40","author":"Qu","year":"2025","journal-title":"Hum. Reprod."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1920","DOI":"10.3390\/genes13111920","article-title":"Genetics of oocyte maturation defects and early embryo development arrest","volume":"13","author":"Solovova","year":"2022","journal-title":"Genes (Basel)"},{"key":"B8","doi-asserted-by":"crossref","DOI":"10.1002\/mco2.70224","article-title":"DLGAP5 mutations disrupt normal chromosome segregation and spindle Formation of human oocyte meiosis and lead to female infertility","author":"Wang","year":"2025"},{"key":"B9","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1186\/s13048-026-02134-6","article-title":"Loss of DLGAP5 impairs human and mouse oocyte maturation via disrupting the PI3K-AKT signaling axis","volume":"19","author":"Wang","year":"2026","journal-title":"J. Ovarian Res."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1016563","DOI":"10.3389\/fendo.2022.1016563","article-title":"Oocyte phenotype, genetic diagnosis, and clinical outcome in case of patients with oocyte maturation arrest","volume":"13","author":"Zhu","year":"2022","journal-title":"Front. Endocrinol. (Lausanne)"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2026.1963011\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T22:10:22Z","timestamp":1790201422000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2026.1963011\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,24]]},"references-count":9,"alternative-id":["10.3389\/fgene.2026.1963011"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2026.1963011","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,24]]},"article-number":"1963011"}}