{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T23:42:48Z","timestamp":1783208568618,"version":"3.54.6"},"reference-count":4,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T00:00:00Z","timestamp":1757894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T00:00:00Z","timestamp":1757894400000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The Male\u2010Specific Lethal 2 Homolog (\n                    <jats:italic>MSL2<\/jats:italic>\n                    ) gene was recently reported to be responsible for a novel, rather severe neurodevelopmental syndrome including brain abnormalities. We report the first prenatal case of an MSL2\u2010related pathology caused by a\n                    <jats:italic>de novo MSL2<\/jats:italic>\n                    splice variant (c.142+1G&gt;T). RNA study on amniotic fluid cells showed an intronic inclusion and frameshift, consistent with loss\u2010of\u2010function intolerance. The fetus, who presented with bilateral moderate ventriculomegaly, also carried a paternally inherited 15q13 microduplication. Brain MRI at 2 and 4\u2009months of age showed stable, mildly enlarged lateral ventricles. Clinical evaluation at 11\u2009months revealed only a mild developmental delay. This case illustrates the challenges in predicting the postnatal outcome of recently characterized syndromes with limited documented cases, especially in association with a second independent genetic anomaly. Follow\u2010up will be crucial to better define the developmental impact of this first reported\n                    <jats:italic>MSL2<\/jats:italic>\n                    splice mutation in combination with the 15q13 microduplication, and characterization of more patients with\n                    <jats:italic>MSL2<\/jats:italic>\n                    mutations will contribute to expanding the phenotypic spectrum.\n                  <\/jats:p>","DOI":"10.1111\/cge.70071","type":"journal-article","created":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T02:20:36Z","timestamp":1757989236000},"page":"581-585","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal Diagnosis of\n                    <i>MSL2<\/i>\n                    \u2010Related Ventriculomegaly in Association With an Inherited\n                    <scp>15q13<\/scp>\n                    Microduplication"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7520-4046","authenticated-orcid":false,"given":"Omar","family":"Zgheib","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Diagnostics Department, Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Rio Frio","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Laboratory Diagnostics Department, Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Marie","family":"Pellegrinelli","sequence":"additional","affiliation":[{"name":"Division of Fetal Medicine, Department of Obstetrics, Gynecology and Pediatrics Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Gimelli","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory Diagnostics Department, Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Marconi","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory Diagnostics Department, Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Le Mercier","sequence":"additional","affiliation":[{"name":"Division of Fetal Medicine, Department of Obstetrics, Gynecology and Pediatrics Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Rebollo Polo","sequence":"additional","affiliation":[{"name":"Division of Radiology Diagnostics Department, Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Habre","sequence":"additional","affiliation":[{"name":"Division of Radiology Diagnostics Department, Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00ebl","family":"Fluss","sequence":"additional","affiliation":[{"name":"Division of Neuropediatrics, Department of Obstetrics, Gynecology and Pediatrics Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russia","family":"Ha\u2010Vinh Leuchter","sequence":"additional","affiliation":[{"name":"Division of Child Development, Department of Obstetrics, Gynecology and Pediatrics Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Abramowicz","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Diagnostics Department, Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalinda","family":"Giannini","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Diagnostics Department, Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siv","family":"Fokstuen","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Diagnostics Department, Geneva University Hospitals  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,9,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2024.05.001"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010023\u201006781\u20103"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010024\u201001576\u20100"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70071","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70071","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70071","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T04:34:36Z","timestamp":1770870876000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70071"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,15]]},"references-count":4,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1111\/cge.70071"],"URL":"https:\/\/doi.org\/10.1111\/cge.70071","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70071\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70071\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70071\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,15]]},"assertion":[{"value":"2025-08-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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