{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:56:55Z","timestamp":1789513015848,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T00:00:00Z","timestamp":1486425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004963","name":"European Union Seventh Framework Programme","doi-asserted-by":"publisher","award":["FP7\/2007\u20102013"],"award-info":[{"award-number":["FP7\/2007\u20102013"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>EPG5<\/jats:italic>\u2010related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the <jats:italic>EPG5<\/jats:italic> gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis. Her MRI demonstrated ACC with frontoparietal polymicrogyria, severe hypomyelination, and pontocerebellar atrophy. This prenatal presentation of malformations of cortical development in combination with ACC expands the <jats:italic>EPG5<\/jats:italic>\u2010related phenotypic spectrum. Our report supports the idea that <jats:italic>EPG5<\/jats:italic>\u2010related Vici syndrome is both a neurodevelopmental and neurodegenerative disorder. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38061","type":"journal-article","created":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T08:38:52Z","timestamp":1486456732000},"page":"706-711","source":"Crossref","is-referenced-by-count":15,"title":["Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by <i>EGP5<\/i> mutation"],"prefix":"10.1002","volume":"173","author":[{"given":"Camille","family":"Maillard","sequence":"first","affiliation":[{"name":"Paris Descartes\u2014Sorbonne Paris Cit\u00e9 University Imagine Institute Paris France"},{"name":"INSERM UMR\u20101163 Embryology and Genetics of Congenital Malformations Paris 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