{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T15:49:10Z","timestamp":1779896950345,"version":"3.53.1"},"reference-count":38,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"publisher","award":["11746"],"award-info":[{"award-number":["11746"]}],"id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>In vitro fertilization (IVF) involves controlled ovarian hyperstimulation using hormones to produce large numbers of oocytes. The success of IVF is tightly linked to the availability of mature oocytes. In most cases, about 70% to 80% of the oocytes are mature at the time of retrieval, however, in rare instances, all of them may be immature, implying that they were not able to reach the metaphase II (MII) stage. The failure to obtain any mature oocytes, despite a well conducted ovarian stimulation in repeated cycles is a very rare cause of primary female infertility, for which the underlying suspected genetic factors are still largely unknown. In this study, we present the whole exome sequencing analysis of a consanguineous Turkish family comprising three sisters with a recurrent oocyte maturation defect. Analysis of the data reveals a homozygous splice site mutation (c.1775-3C&gt;A) in the zona pellucida glycoprotein 1 (ZP1) gene. Minigene experiments show that the mutation causes the retention of the intron 11 sequence between exon 11 and exon 12, resulting in a frameshift and the likely production of a truncated protein.<\/jats:p>","DOI":"10.3390\/genes11040382","type":"journal-article","created":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T13:39:34Z","timestamp":1585834774000},"page":"382","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect"],"prefix":"10.3390","volume":"11","author":[{"given":"\u00d6zlem","family":"Okutman","sequence":"first","affiliation":[{"name":"Institut de Parasitologie et Pathologie Tropicale, EA 7292, F\u00e9d\u00e9ration de M\u00e9decine Translationelle (IPPTS), Universit\u00e9 de Strasbourg, 3 rue Koeberl\u00e9, 67000 Strasbourg, France"},{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique, UF3472-g\u00e9n\u00e9tique de l\u2019infertilit\u00e9, H\u00f4pitaux Universitaires de Strasbourg, 67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cem","family":"Demirel","sequence":"additional","affiliation":[{"name":"Memorial Atasehir Hospital, In Vitro Fertilization (IVF) Andrology and Genetics Center, Kucukbakkalkoy mh.Vedat Gunyol cd No:28-30, 34758 Atasehir\/Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1668-8746","authenticated-orcid":false,"given":"Firat","family":"T\u00fclek","sequence":"additional","affiliation":[{"name":"Memorial Atasehir Hospital, In Vitro Fertilization (IVF) Andrology and Genetics Center, Kucukbakkalkoy mh.Vedat Gunyol cd No:28-30, 34758 Atasehir\/Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronique","family":"Pfister","sequence":"additional","affiliation":[{"name":"M\u00e9decine Translationnelle et Neurog\u00e9n\u00e9tique, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Institut National de Sant\u00e9 et de Recherche M\u00e9dicale (INSERM), U964\/Centre National de Recherche Scientifique (CNRS) UMR 7104, Universit\u00e9 de Strasbourg, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umut","family":"B\u00fcy\u00fck","sequence":"additional","affiliation":[{"name":"Hibrigen Biotechnology R&amp;D Industry and Trade Ltd. Co.,Tubitak MAM Teknoloji Serbest Bolgesi, Baris SB Mh 5002.sk Yeni Tek. Binasi ABlok 4, A\/101 Gebze\/Kocaeli, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7682-559X","authenticated-orcid":false,"given":"Jean","family":"Muller","sequence":"additional","affiliation":[{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique, H\u00f4pitaux Universitaires de Strasbourg, 67000 Strasbourg, France"},{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1112, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, 67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Charlet-Berguerand","sequence":"additional","affiliation":[{"name":"M\u00e9decine Translationnelle et Neurog\u00e9n\u00e9tique, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Institut National de Sant\u00e9 et de Recherche M\u00e9dicale (INSERM), U964\/Centre National de Recherche Scientifique (CNRS) UMR 7104, Universit\u00e9 de Strasbourg, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Viville","sequence":"additional","affiliation":[{"name":"Institut de Parasitologie et Pathologie Tropicale, EA 7292, F\u00e9d\u00e9ration de M\u00e9decine Translationelle (IPPTS), Universit\u00e9 de Strasbourg, 3 rue Koeberl\u00e9, 67000 Strasbourg, France"},{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique, UF3472-g\u00e9n\u00e9tique de l\u2019infertilit\u00e9, H\u00f4pitaux Universitaires de Strasbourg, 67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1093\/humupd\/dmv011","article-title":"Oocyte maturation: Gamete-somatic cells interactions, meiotic resumption, cytoskeletal dynamics and cytoplasmic reorganization","volume":"21","author":"Coticchio","year":"2015","journal-title":"Hum. 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