{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T03:50:38Z","timestamp":1777002638501,"version":"3.51.4"},"reference-count":43,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,4,19]],"date-time":"2026-04-19T00:00:00Z","timestamp":1776556800000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Autosomal recessive microcephaly type 2 (MCPH2), caused by biallelic\n                      <jats:italic>WDR62<\/jats:italic>\n                      variants, is a rare neurodevelopmental disorder typically described postnatally. We aimed to delineate its prenatal phenotype via data from two affected fetuses in a family.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Trio whole\u2010exome sequencing (WES) was performed on one fetus and his parents. Variants were prioritized via population databases, computational predictions, and segregation analysis, which were confirmed via Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Prenatal imaging revealed microcephaly, agenesis of the corpus callosum, and neuronal migration defects (lobar holoprosencephaly and lissencephaly) in two fetuses. Trio\u2010WES identified compound heterozygous\n                      <jats:italic>WDR62<\/jats:italic>\n                      variants (c.1128C &gt; A\/p.Cys376* and c.643A &gt; C\/p.Thr215Pro) in one fetus, each inherited from a heterozygous parent. Sanger sequencing confirmed variants in both fetuses and parents.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Trio\u2010WES is crucial for the prenatal diagnosis of fetuses with unresolved sonographic anomalies. We report the prenatal features and molecular diagnoses of MCPH2, expanding its prenatal phenotypic spectrum and enhancing its clinical genomic database utility.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70203","type":"journal-article","created":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T03:50:31Z","timestamp":1776657031000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous\n                    <scp>\n                      <i>WDR62<\/i>\n                    <\/scp>\n                    Variants in a Family With Two Recurrent Cases"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-3703-5214","authenticated-orcid":false,"given":"Yan\u2010Fang","family":"Li","sequence":"first","affiliation":[{"name":"Department of Obstetrics The Second Affiliated Hospital of Guangzhou Medical University  Guangzhou Guangdong Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Song\u2010Hui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics The Second Affiliated Hospital of Guangzhou Medical University  Guangzhou Guangdong Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Zhen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangdong Second Provincial General Hospital  Guangzhou Guangdong Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3021-4683","authenticated-orcid":false,"given":"Lan\u2010Zhen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics The Second Affiliated Hospital of Guangzhou Medical University  Guangzhou Guangdong Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,4,19]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2014.38"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-024-09728-7"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12144"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01686.x"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09327"},{"key":"e_1_2_11_7_1","first-page":"5096","article-title":"WD40\u2010Repeat Protein 62 Is a JNK\u2010Phosphorylated Spindle Pole Protein Required for Spindle Maintenance and Timely Mitotic Progression","volume":"125","author":"Bogoyevitch M. 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