{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T08:08:56Z","timestamp":1790064536151,"version":"4.0.1"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T00:00:00Z","timestamp":1501113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in <jats:italic>EPG5<\/jats:italic> encoding a key autophagy regulator with a crucial role in autophagosome\u2013lysosome fusion. The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. Clinical course is variable but usually progressive and associated with high mortality. Here, we present a fetus, offspring of consanguineous parents, in whom callosal agenesis and other developmental brain abnormalities were detected on fetal ultrasound scan (US) and subsequent MRI scan in the second trimester. Postmortem examination performed after medically indicated termination of pregnancy confirmed CNS abnormalities and provided additional evidence for skin hypopigmentation, nascent cataracts, and hypertrophic cardiomyopathy. Genetic testing prompted by a suggestive combination of features revealed a homozygous <jats:italic>EPG5<\/jats:italic> mutation (c.5870\u20101G&gt;A) predicted to cause aberrant splicing of the <jats:italic>EPG5<\/jats:italic> transcript. Our findings expand the phenotypical spectrum of <jats:italic>EPG5<\/jats:italic>\u2010related Vici syndrome and suggest that this severe condition may already present in utero. While callosal agenesis is not an uncommon finding in fetal medicine, additional presence of hypopigmentation, cataracts and cardiomyopathy is rare and should prompt <jats:italic>EPG5<\/jats:italic> testing.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38342","type":"journal-article","created":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T06:56:40Z","timestamp":1501138600000},"page":"2522-2527","source":"Crossref","is-referenced-by-count":10,"title":["Autopsy findings in <i>EPG5<\/i>\u2010related Vici syndrome with antenatal onset"],"prefix":"10.1002","volume":"173","author":[{"given":"Renaud","family":"Touraine","sequence":"first","affiliation":[{"name":"CHU\u2010H\u00f4pital Nord Service de G\u00e9n\u00e9tique Saint Etienne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Laquerri\u00e8re","sequence":"additional","affiliation":[{"name":"Pathology Laboratory Rouen University Hospital Rouen France"},{"name":"Normandie Univ UNIROUEN, N\u00e9oVasc Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen\u2010Adina","family":"Petcu","sequence":"additional","affiliation":[{"name":"CHU\u2010H\u00f4pital Nord Service d'Anatomopathologie Saint Etienne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florent","family":"Marguet","sequence":"additional","affiliation":[{"name":"Pathology Laboratory Rouen University Hospital Rouen France"},{"name":"Normandie Univ UNIROUEN, N\u00e9oVasc Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Byrne","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital Guy's &amp; St. Thomas\u2019 Hospital NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael","family":"Mein","sequence":"additional","affiliation":[{"name":"GSTS Pathology Guy's Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu","family":"Yau","sequence":"additional","affiliation":[{"name":"GSTS Pathology Guy's Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shehla","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Guy's Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Guibaud","sequence":"additional","affiliation":[{"name":"Imagerie P\u00e9diatrique et F\u0153tale H\u00f4pital Femme M\u00e8re Enfant Lyon\u2010Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathias","family":"Gautel","sequence":"additional","affiliation":[{"name":"Randall Division for Cell and Molecular Biophysics Muscle Signaling Section, King's College London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7159-3427","authenticated-orcid":false,"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital Guy's &amp; St. Thomas\u2019 Hospital NHS Foundation Trust London UK"},{"name":"Randall Division for Cell and Molecular Biophysics Muscle Signaling Section, King's College London UK"},{"name":"Department of Basic and Clinical Neuroscience IoPPN, King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,27]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv393"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2497"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32418"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2005.24.6.791"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww135"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000014"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36753"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/421582"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12315"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1331"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290102"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201211014"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38342","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38342","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T20:27:04Z","timestamp":1696537624000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38342"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,27]]},"references-count":12,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1002\/ajmg.a.38342"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38342","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,27]]}}}