{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T21:08:44Z","timestamp":1772831324288,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T00:00:00Z","timestamp":1630540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2016YFC1000306"],"award-info":[{"award-number":["2016YFC1000306"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Vici syndrome (VICIS) refers to a clinical spectrum of multiple organ systems characterized by corpus callosum agenesis, hypopigmentation, cataracts, cardiomyopathy and immunodeficiency. The aims of this study were to describe detailed clinical and molecular features of two Chinese female siblings and to review several previous findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Targeted sequencing panel involving all known disease\u2010causing genes of monogenic disorders combined with Sanger sequencing validation were performed to identify the likely pathogenic sequence variants of the proband with VICIS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband diagnosed as VICIS presented with neonatal pneumonia, myocardial damage, hypotonia, maxillofacial malformations, hearing impairment, failure to thrive and died 40\u2009days after birth. Two novel missense variants in ectopic P\u2010granules autophagy protein 5 homologue (<jats:italic>EPG5<\/jats:italic>, NM_020964.3) were identified in this proband. The two likely pathogenic variants c.1609G\u2009&gt;\u2009A (p.(E537K)) and c.5764C&gt;G (p.(P1922A)) were assessed as damaging by bioinformatic analysis. As these variants were absent in 150 unrelated Chinese normal controls and inherited from asymptomatic parents in the co\u2010segregation analysis, the compound heterozygous <jats:italic>EPG5<\/jats:italic> variants were responsible for the clinical features of this patient. Finally, she was genetically diagnosed with VICIS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>To our knowledge, this is the first Chinese case of VICIS. Our report identified novel compound heterozygous <jats:italic>EPG5<\/jats:italic> sequence variants in the proband with VICIS, highlighting the rarity and high mortality rate of VICIS and emphasizing on the importance of high\u2010throughput sequencing in confirmed diagnosis of monogenic diseases, which could further facilitate the development of genetic counselling and prenatal diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jdn.10147","type":"journal-article","created":{"date-parts":[[2021,8,18]],"date-time":"2021-08-18T05:09:40Z","timestamp":1629263380000},"page":"706-716","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in <i>EPG5<\/i>"],"prefix":"10.1002","volume":"81","author":[{"given":"Liping","family":"Dong","sequence":"first","affiliation":[{"name":"Medical Genetic Department The Affiliated Hospital of Qingdao University  Qingdao China"},{"name":"Neonatal Disease Screening Center Zibo Maternal and Child Health Hospital  Zibo China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4500-7412","authenticated-orcid":false,"given":"Liangshan","family":"Li","sequence":"additional","affiliation":[{"name":"Medical Genetic Department The Affiliated Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Medical Genetic Department The Affiliated Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Neurological Examination The Affiliated Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengmeng","family":"Han","sequence":"additional","affiliation":[{"name":"Medical Genetic Department The Affiliated Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiguo","family":"Liu","sequence":"additional","affiliation":[{"name":"Medical Genetic Department The Affiliated Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,2]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000022302"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tox.2013.07.001"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.3889\/oamjms.2018.271"},{"key":"e_1_2_12_5_1","first-page":"19","volume-title":"JIMD Reports","author":"Balasubramaniam S.","year":"2017"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0399-x"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv393"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2497"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000233"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290102"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36772"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34244"},{"key":"e_1_2_12_13_1","first-page":"205","article-title":"Comparative integromics on the breast cancer\u2010associated gene kiaa1632: Clues to a cancer antigen domain","volume":"31","author":"Halama N.","year":"2007","journal-title":"International Journal of Oncology"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.05.005"},{"key":"e_1_2_12_15_1","doi-asserted-by":"crossref","first-page":"474","DOI":"10.24953\/turkjped.2020.03.015","article-title":"Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay","volume":"62","author":"Hizal M.","year":"2020","journal-title":"The Turkish Journal of Pediatrics"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-02840-8"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37589"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38061"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33296"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31584"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312-019-1561-z"},{"key":"e_1_2_12_22_1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/s42003-021-01830-x","article-title":"Insights on autophagosome\u2013lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5","volume":"4","author":"Nam S.","year":"2021","journal-title":"Communications Biology"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37398"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12337"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38676"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10147","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jdn.10147","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10147","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T09:52:56Z","timestamp":1693216376000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.10147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,2]]},"references-count":25,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/jdn.10147"],"URL":"https:\/\/doi.org\/10.1002\/jdn.10147","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,2]]},"assertion":[{"value":"2021-06-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}