{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:40Z","timestamp":1753869700567,"version":"3.41.2"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T00:00:00Z","timestamp":1744329600000},"content-version":"vor","delay-in-days":10,"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":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>CDG2L (MIM#614576) is an autosomal recessive multisystemic disorder due to variants in <jats:italic>COG6<\/jats:italic> gene. Postnatal phenotypes are now well described, while prenatal presentations remain poorly investigated. Only 8 of the 28 published patients have had prenatal ultrasound anomalies reported and no one post\u2010mortem investigation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We used whole\u2010exome sequencing in a consanguineous Turkish family with four siblings presenting with Pierre Robin sequence, arthrogryposis, heart malformation, splenomegaly, hydrocephaly, corpus callosum dysgenesis, brainstem, and cerebellar hypoplasia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel homozygous pathogenic variant in exon 9 of <jats:italic>COG6<\/jats:italic> (NM_020751.2): c.821del, p.(Arg274Lysfs*32). In this family, our post\u2010mortem study led us to describe further the prenatal phenotype of CDG2L. In addition, it permits correlating the most relevant anomalies to a maldevelopmental cascade due to a neurodegenerative process of metabolic origin, affecting the entire central nervous system including the spinal cord.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this context of recurrence of multisystemic disease diagnosed antenatally, exome sequencing is powerful to give a precise diagnosis and allows proposing a molecular prenatal diagnosis at the following pregnancy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2442","type":"journal-article","created":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T10:34:08Z","timestamp":1744367648000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>COG6<\/i><scp>\u2010related<\/scp> prenatal phenotype (CDG2L): Clinico\u2010pathological report and review of the literature"],"prefix":"10.1002","volume":"13","author":[{"given":"Sarah","family":"Guterman","sequence":"first","affiliation":[{"name":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique H\u00f4pital Necker\u2010Enfants Malades, APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnese","family":"Feresin","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker\u2010Enfants Malades, APHP  Paris France"},{"name":"University of Study of Trieste  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucile","family":"Boutaud","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker\u2010Enfants Malades, APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e9mence","family":"Jacquin","sequence":"additional","affiliation":[{"name":"Service de 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