{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T12:01:48Z","timestamp":1764936108157,"version":"build-2065373602"},"reference-count":26,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,9,17]]},"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The neurodevelopmental prognosis of anomalies of the corpus callosum (ACC), one of the most frequent brain malformations, varies extremely, ranging from normal development to profound intellectual disability (ID). Numerous genes are known to cause syndromic ACC with ID, whereas the genetics of ACC without ID remains poorly deciphered.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Through a collaborative work, we describe here <jats:italic>ZEB1<\/jats:italic>, a gene previously involved in an ophthalmological condition called type 3 posterior polymorphous corneal dystrophy, as a new dominant gene of ACC. We report a series of nine individuals with ACC (including three fetuses terminated due to ACC) carrying a <jats:italic>ZEB1<\/jats:italic> heterozygous loss-of-function (LoF) variant, identified by exome sequencing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrates the incomplete penetrance of ACC in individuals with an LoF in <jats:italic>ZEB1<\/jats:italic>. All patients reported normal schooling and none of them had ID. Neuropsychological assessment in six patients showed either normal functioning or heterogeneous cognition. Moreover, two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth, which suggests a larger spectrum of malformations related to <jats:italic>ZEB1<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This study shows <jats:italic>ZEB1<\/jats:italic> LoF variants cause dominantly inherited ACC without ID and extends the extraocular phenotype related to this gene.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2023-109293","type":"journal-article","created":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T13:26:19Z","timestamp":1697721979000},"page":"244-249","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Loss-of-function variants in <i>ZEB1<\/i> cause dominant anomalies of the corpus callosum with favourable cognitive prognosis"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4673-9762","authenticated-orcid":false,"given":"Solveig","family":"Heide","sequence":"first","affiliation":[{"name":"Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Universit\u00e9, Assistance Publique-Hopitaux de Paris, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, 75013, France, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Argilli","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA"},{"name":"Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phanie","family":"Valence","sequence":"additional","affiliation":[{"name":"Department of Neuropediatry & Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Universit\u00e9, Hopital Armand-Trousseau, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucile","family":"Boutaud","sequence":"additional","affiliation":[{"name":"Genomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Roux","sequence":"additional","affiliation":[{"name":"Genomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[{"name":"Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Universit\u00e9, Assistance Publique-Hopitaux de Paris, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, 75013, France, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Nava","sequence":"additional","affiliation":[{"name":"Department of Genetics, Unit of Developmental Genomics, AP-HP.Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[{"name":"Department of Genetics, Unit of Developmental Genomics, AP-HP.Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"Giraudat","sequence":"additional","affiliation":[{"name":"Department of Neuropediatry & Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Universit\u00e9, Hopital Armand-Trousseau, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Faudet","sequence":"additional","affiliation":[{"name":"Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Universit\u00e9, Assistance Publique-Hopitaux de Paris, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, 75013, France, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Gerasimenko","sequence":"additional","affiliation":[{"name":"Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Universit\u00e9, Assistance Publique-Hopitaux de Paris, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, 75013, France, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Garel","sequence":"additional","affiliation":[{"name":"Department of pediatric and prenatal imaging, Armand-Trousseau Hospital, Sorbonne Universit\u00e9, Assistance Publique des H\u00f4pitaux de Paris (AP-HP), Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonore","family":"Blondiaux","sequence":"additional","affiliation":[{"name":"Department of pediatric and prenatal imaging, Armand-Trousseau Hospital, Sorbonne Universit\u00e9, Assistance Publique des H\u00f4pitaux de Paris (AP-HP), Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agn\u00e8s","family":"Rastetter","sequence":"additional","affiliation":[{"name":"Paris Brain Institute (ICM Institut du Cerveau), Sorbonne Universit\u00e9, INSERM UMR S 1127, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Grevent","sequence":"additional","affiliation":[{"name":"Radiology Department, Hopital universitaire Necker-enfants Malades, Paris, France"},{"name":"EA fetus 7328 and LUMIERE Platform, Universit\u00e9 de Paris, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn","family":"Le","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, USA"},{"name":"Department of Neurology, University of California, Institute of Human Genetics and Weill Institute for Neurosciences, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Mackenzie","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Washington University in St Louis School of Medicine, St Louis, Missouri, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Richards","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Washington University in St Louis School of Medicine, St Louis, Missouri, USA"},{"name":"Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Atti\u00e9-Bitach","sequence":"additional","affiliation":[{"name":"Genomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique H\u00f4pitaux de Paris, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christel","family":"Depienne","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, Universitu Duisburg-Essen, Essen, 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