{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T12:44:01Z","timestamp":1784724241360,"version":"3.55.0"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,4,21]],"date-time":"2018-04-21T00:00:00Z","timestamp":1524268800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institute for Health","award":["4T32NS077984-05"],"award-info":[{"award-number":["4T32NS077984-05"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:p>Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly. Most individuals are severely affected and have a markedly reduced life span. Here we describe an 8\u2010year\u2010old boy with a history of developmental delay, agenesis of the corpus callosum, failure to thrive, myopathy, and well\u2010controlled epilepsy. He was initially diagnosed with a mitochondrial disorder, based in part upon nonspecific muscle biopsy findings, but mitochondrial DNA mutation analysis revealed no mutations. Whole exome sequencing revealed compound heterozygosity for two <jats:italic>EPG5<\/jats:italic> variants, inherited in <jats:italic>trans<\/jats:italic>. One was a known pathogenic mutation in exon 13 (c.2461C\u2009&gt;\u2009T, p.Arg821X). The second was reported as a variant of unknown significance found within intron 16, six nucleotides before the exon 17 splice acceptor site (c.3099\u20106C\u2009&gt;\u2009G). Reverse transcription\u2010polymerase chain reaction of the <jats:italic>EPG5<\/jats:italic> mRNA showed skipping of exon 17\u2014which maintains an open reading frame\u2014in 77% of the transcript, along with 23% expression of wild\u2010type mRNA suggesting that intronic mutations may affect splicing of the <jats:italic>EPG5<\/jats:italic> gene and result in symptoms. However, the expression of 23% wild\u2010type mRNA may result in a significantly attenuated Vici syndrome phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.38676","type":"journal-article","created":{"date-parts":[[2018,4,22]],"date-time":"2018-04-22T04:10:11Z","timestamp":1524370211000},"page":"1207-1211","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Low\u2010level expression of <i>EPG5<\/i> leads to an attenuated Vici syndrome phenotype"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9621-8319","authenticated-orcid":false,"given":"Megan A.","family":"Waldrop","sequence":"first","affiliation":[{"name":"The Center for Gene Therapy Nationwide Children's Hospital Columbus Ohio"},{"name":"Department of Pediatrics The Ohio State University Columbus Ohio"},{"name":"Department of Neurology The Ohio State University Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felecia","family":"Gumienny","sequence":"additional","affiliation":[{"name":"The Center for Gene Therapy Nationwide Children's Hospital Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Boue","sequence":"additional","affiliation":[{"name":"Department of Pathology The Ohio State University Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"de los Reyes","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Nationwide Children's Hospital Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Shell","sequence":"additional","affiliation":[{"name":"Department of Pulmonology Nationwide Children's Hospital Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert B.","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Human Genetics The University of Utah School of Medicine Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin M.","family":"Flanigan","sequence":"additional","affiliation":[{"name":"The Center for Gene Therapy Nationwide Children's Hospital Columbus Ohio"},{"name":"Department of Pediatrics The Ohio State University Columbus Ohio"},{"name":"Department of Neurology The Ohio State University Columbus 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