{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:56:09Z","timestamp":1791381369731,"version":"4.3.3"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T00:00:00Z","timestamp":1772150400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T00:00:00Z","timestamp":1772150400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Pathogenic variants of the\n                      <jats:italic>CUL3<\/jats:italic>\n                      gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This multi\u2010center case series adds seven new cases from 5 pedigrees with pathogenic CUL3 variants identified through exome sequencing. We analyzed the new data and integrated the findings with a comprehensive review of 18 prenatal cases in the literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Our analysis of a combined cohort of 25 prenatal cases confirms that intrauterine growth restriction and increased nuchal translucency are frequent, nonspecific findings. The most significant novel finding in our series was cerebellar hypoplasia, which was identified in three\u00a0of the new cases. Other findings included cardiac anomalies, abnormal sulcation, and skeletal abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study expands on the known prenatal phenotype of\n                      <jats:italic>CUL3<\/jats:italic>\n                      \u2010related neurodevelopmental disorders, proposing cerebellar hypoplasia as a new sonographic marker. The presence of cerebellar hypoplasia should significantly raise suspicion for a\n                      <jats:italic>CUL3<\/jats:italic>\n                      \u2010related neurodevelopmental disorder. This finding provides a strong rationale for pursuing exome sequencing and serves as critical evidence for the clinical interpretation of\n                      <jats:italic>CUL3<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70106","type":"journal-article","created":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T00:20:49Z","timestamp":1773015649000},"page":"1122-1129","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>CUL3<\/i>\n                    \u2010Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3233-258X","authenticated-orcid":false,"given":"Yoel","family":"Gofin","sequence":"first","affiliation":[{"name":"Genetics Institute Meir Medical Center  Kfar Saba Israel"},{"name":"School of Medicine Faculty of Medical and Health Sciences Tel Aviv University  Tel Aviv Israel"},{"name":"The Genetic Institute of Maccabi Health Services  Rehovot Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Dery","sequence":"additional","affiliation":[{"name":"Genetics Institute Meir Medical Center  Kfar Saba Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamar","family":"Tenne","sequence":"additional","affiliation":[{"name":"Genetics Institute Meir Medical Center  Kfar Saba Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Racheli Goldfarb","family":"Yaacobi","sequence":"additional","affiliation":[{"name":"Genetics Institute Meir Medical Center  Kfar Saba Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Block","sequence":"additional","affiliation":[{"name":"Genetics Institute Meir Medical Center  Kfar Saba Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina Lifshitc","family":"Kalis","sequence":"additional","affiliation":[{"name":"Raphael Recanati Genetic Institute Rabin Medical Center \u2010 Beilinson Hospital  Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6631-0376","authenticated-orcid":false,"given":"Hagar","family":"Mor\u2010Shaked","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"},{"name":"Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liza","family":"Douiev\u2010Charpak","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Birnbaum","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem 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