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In oocyte maturation defect (OMD), affected patients have a primary infertility with normal menstrual cycles but produce no oocyte, degenerated (atretic) or abnormal oocytes blocked at different stages of maturation. Four genes have so far been associated with OMD:\n                    <jats:italic>PATL2<\/jats:italic>\n                    ,\n                    <jats:italic>TUBB8<\/jats:italic>\n                    ,\n                    <jats:italic>WEE2<\/jats:italic>\n                    , and\n                    <jats:italic>ZP1<\/jats:italic>\n                    . In our initial study, 6 out of 23 OMD subjects were shown to carry the same\n                    <jats:italic>PATL2<\/jats:italic>\n                    homozygous loss of function variant and one patient had a\n                    <jats:italic>TUBB8<\/jats:italic>\n                    truncating variant. Here, we included four additional OMD patients and reanalyzed all 27 subjects. In addition to the seven patients with a previously identified defect, five carried the same deleterious homozygous\n                    <jats:italic>ZP1<\/jats:italic>\n                    variant (c.1097G&gt;A; p.Arg366Gln). All the oocytes from\n                    <jats:italic>ZP1<\/jats:italic>\n                    \u2010associated patients appeared shriveled and dark indicating that the abnormal ZP1 protein induced oocyte death and degeneration. Overall\n                    <jats:italic>ZP1<\/jats:italic>\n                    \u2010associated patients had degenerated or absent oocytes contrary to\n                    <jats:italic>PATL2\u2010<\/jats:italic>\n                    associated subjects who had immature oocytes blocked mainly at the germinal vesicle stage. In this cohort of North African OMD patients, whole exome sequencing permitted to diagnose 44% of the patients studied and to identify a new frequent\n                    <jats:italic>ZP1<\/jats:italic>\n                    variant.\n                  <\/jats:p>","DOI":"10.1111\/cge.14144","type":"journal-article","created":{"date-parts":[[2022,4,22]],"date-time":"2022-04-22T22:04:45Z","timestamp":1650665085000},"page":"22-29","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["A recurrent\n                    <i>ZP1<\/i>\n                    variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females"],"prefix":"10.1111","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6474-4453","authenticated-orcid":false,"given":"Corinne","family":"Loeuillet","sequence":"first","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Univ. Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Dhellemmes","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Univ. Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8962-3447","authenticated-orcid":false,"given":"Caroline","family":"Cazin","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Univ. Grenoble Alpes  Grenoble France"},{"name":"CHU Grenoble Alpes UM GI\u2010DPI  Grenoble France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique Mol\u00e9culaire Laboratoire Eurofins Biomnis  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zine\u2010Eddine","family":"Kherraf","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Univ. Grenoble Alpes  Grenoble France"},{"name":"CHU Grenoble Alpes UM GI\u2010DPI  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selima","family":"Fourati Ben Mustapha","sequence":"additional","affiliation":[{"name":"Polyclinique les Jasmins Centre d'Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Centre Urbain Nord  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoudha","family":"Zouari","sequence":"additional","affiliation":[{"name":"Polyclinique les Jasmins Centre d'Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Centre Urbain Nord  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7667-2853","authenticated-orcid":false,"given":"Nicolas","family":"Thierry\u2010Mieg","sequence":"additional","affiliation":[{"name":"CNRS, UMR5525, TIMC Univ. Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Arnoult","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Univ. Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1544-7449","authenticated-orcid":false,"given":"Pierre F.","family":"Ray","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Univ. 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