{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T01:06:15Z","timestamp":1767834375061,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,1,12]],"date-time":"2024-01-12T00:00:00Z","timestamp":1705017600000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mega\u2010corpus\u2010callosum syndrome with cerebellar hypoplasia and cortical malformations is a rare neurological disorder that is associated with typical clinical and imaging features. The syndrome is caused by pathogenic variants in the <jats:italic>MAST1<\/jats:italic> gene, which encodes a microtubule\u2010associated protein that is predominantly expressed in postmitotic neurons in the developing nervous system.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fetal DNA from umbilical cord blood samples and genomic DNA from peripheral blood lymphocytes were subjected to whole\u2010exome sequencing. The potential causative variants were verified by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 26\u2010year\u2010old primigravid woman was referred to our prenatal center at 25\u2009weeks of gestation due to abnormal ultrasound findings in the brain of the fetus. The brain abnormalities included wide cavum septum pellucidum, shallow and incomplete bilateral lateral fissure cistern, bilateral dilated lateral ventricles, hyperplastic corpus callosum, lissencephaly, and cortical dysplasia. No obvious abnormalities were observed in the brainstem or cerebellum hemispheres, but the cerebellum vermis was small. Whole\u2010exome sequencing identified a de novo, heterozygous missense variant, c.695T&gt;C(p.Leu232Pro), in the <jats:italic>MAST1<\/jats:italic> gene and a genetic diagnosis of mega\u2010corpus\u2010callosum syndrome was considered.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study is the first prenatal case of <jats:italic>MAST1<\/jats:italic>\u2010related disorder reported in the Chinese population and has expanded the mutation spectrum of the <jats:italic>MAST1<\/jats:italic> gene.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2358","type":"journal-article","created":{"date-parts":[[2024,1,12]],"date-time":"2024-01-12T12:36:11Z","timestamp":1705062971000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A genetic variant in the <i>MAST1<\/i> gene is associated with mega\u2010corpus\u2010callosum syndrome with hypoplastic cerebellar vermis, in a fetus"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2130-7701","authenticated-orcid":false,"given":"Sheng","family":"Yi","sequence":"first","affiliation":[{"name":"Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning China"},{"name":"Guangxi Clinical Research Center for Pediatric Diseases, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianglian","family":"Tang","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory, 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