{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:56:31Z","timestamp":1789512991684,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,10,20]],"date-time":"2014-10-20T00:00:00Z","timestamp":1413763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["0313911"],"award-info":[{"award-number":["0313911"]}],"id":[{"id":"10.13039\/501100002347","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":[[2014,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation. Cullup et al. recently identified mutations in the gene <jats:italic>EPG5<\/jats:italic> as the cause of Vici syndrome. <jats:italic>EPG5<\/jats:italic> is involved in autophagy, an evolutionarily conserved lysosomal degradation process that is essential for cell homeostasis. Following the first description in 1988 by Vici et al., 24 other cases of Vici syndrome have been published with variable expression of the defining features. Here, we report on a further case of Vici syndrome with a homozygous truncating mutation of <jats:italic>EPG5<\/jats:italic>, identified by whole\u2010exome sequencing. The mutation in our patient is the first reported affecting the penultimate exon of <jats:italic>EPG5<\/jats:italic> and presenting with typical clinical manifestations of Vici syndrome. Additionally, we present a detailed clinical analysis of Vici syndrome comprising all cases previously described in the literature. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36772","type":"journal-article","created":{"date-parts":[[2014,10,20]],"date-time":"2014-10-20T17:48:33Z","timestamp":1413827313000},"page":"3170-3175","source":"Crossref","is-referenced-by-count":36,"title":["First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of <i>EPG5<\/i> and review of the literature"],"prefix":"10.1002","volume":"164","author":[{"given":"Nadja","family":"Ehmke","sequence":"first","affiliation":[{"name":"Institute of Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nima","family":"Parvaneh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Medical Center Tehran University of Medical Sciences Tehran Iran"},{"name":"Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Krawitz","sequence":"additional","affiliation":[{"name":"Institute of Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Berlin Center for Regenerative Therapies (BCRT) Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Max Planck Institute for Molecular Genetics Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud\u2010Reza","family":"Ashrafi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Medical Center Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parviz","family":"Karimi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Medical Center Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehrzad","family":"Mehdizadeh","sequence":"additional","affiliation":[{"name":"Radiology Division Children's Medical Center Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Kr\u00fcger","sequence":"additional","affiliation":[{"name":"Institute of Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jochen","family":"Hecht","sequence":"additional","affiliation":[{"name":"Institute of Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Berlin Center for Regenerative Therapies (BCRT) Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Max Planck Institute for Molecular Genetics Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[{"name":"Institute of Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Berlin Center for Regenerative Therapies (BCRT) Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Max Planck Institute for Molecular Genetics Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter N.","family":"Robinson","sequence":"additional","affiliation":[{"name":"Institute of Medical and Human Genetics Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Berlin Center for Regenerative Therapies (BCRT) Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"Max Planck Institute for Molecular Genetics Berlin Germany"},{"name":"Institute for Bioinformatics Department of Mathematics and Computer Science Freie Universit\u00e4t Berlin Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,10,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tox.2013.07.001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33421"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.008"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10298"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1205406"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2497"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<479::AID-AJMG9>3.0.CO;2-D"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2010.01103.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290102"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05925"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34244"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1196"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm473"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts462"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.003"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09782"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr509"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33296"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31584"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06639"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.437103"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1574"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/35022604"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.07.007"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.017"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/421582"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34273"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.4161\/auto.6.5.11947"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.04.034"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.4161\/auto.24856"}],"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.36772","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36772","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T12:28:01Z","timestamp":1696595281000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36772"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,20]]},"references-count":31,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1002\/ajmg.a.36772"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36772","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,20]]}}}