{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T05:23:38Z","timestamp":1783401818631,"version":"3.54.6"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T00:00:00Z","timestamp":1560211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a sibling pair with the <jats:italic>EPG5<\/jats:italic> c.1007A\u00a0&gt;\u00a0G mutation who developed a severe form of Vici syndrome and died in infancy. The c.1007A\u00a0&gt;\u00a0G (p.Gln336Arg) mutation, affecting the penultimate nucleotide and the splicing of exon 2 is the most common mutation of <jats:italic>EPG5<\/jats:italic> and is typically associated with a less devastating prognosis: cardiomyopathy and cataract are less frequent consequences and the median survival time is 78 months compared to an overall median survival of 42 months. The less severe course related to c.1007A\u00a0&gt;\u00a0G was formerly explained by the preserved canonical splicing in 25% of the transcripts. In contrast, we found the messenger RNA encoded by the c.1007A\u00a0&gt;\u00a0G allele to be absent, explaining the severe course of the disease. This family provides another example of phenotypic variability related to a differential splicing.<\/jats:p>","DOI":"10.1111\/ahg.12337","type":"journal-article","created":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T12:39:30Z","timestamp":1560256770000},"page":"80-86","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<i>EPG5<\/i> c.1007A\u00a0&gt;\u00a0G mutation in a sibling pair with rapidly progressing Vici syndrome"],"prefix":"10.1111","volume":"84","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1007-8875","authenticated-orcid":false,"given":"Eszter","family":"Vojcek","sequence":"first","affiliation":[{"name":"1st Department of Pediatrics Semmelweis University  Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00e1lia Magdolna","family":"Keszthelyi","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics Semmelweis University  Budapest Hungary"},{"name":"MTA\u2010SE Lendulet Nephrogenetic Laboratory  Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eszter","family":"J\u00e1vorszky","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics Semmelweis University  Budapest Hungary"},{"name":"MTA\u2010SE Lendulet Nephrogenetic Laboratory  Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00eddia","family":"Balogh","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics Semmelweis University  Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00e1lm\u00e1n","family":"Tory","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics Semmelweis University  Budapest Hungary"},{"name":"MTA\u2010SE Lendulet Nephrogenetic Laboratory  Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38575"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33421"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.3889\/oamjms.2018.271"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2017_71"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww136"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0399-x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv393"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv802"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5517"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10298"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2497"},{"key":"e_1_2_7_13_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_7_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000233"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290102"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36772"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-0297"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.05.005"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-02840-8"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37589"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww135"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38061"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1310"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33296"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31584"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.12.1771"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.07.007"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/421582"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34273"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40500"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37398"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38676"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2016.08.021"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12337","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ahg.12337","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12337","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T00:57:39Z","timestamp":1693616259000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12337"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,11]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1111\/ahg.12337"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12337","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,11]]},"assertion":[{"value":"2018-11-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}