{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T23:31:56Z","timestamp":1767828716173,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,8,27]],"date-time":"2018-08-27T00:00:00Z","timestamp":1535328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>Vici syndrome is a rare, autosomal recessive, multisystem disorder, characterized by agenesis of the corpus callosum, cataracts, psychomotor delay, cardiomyopathy, hypopigmentation, and recurrent infections. Mutations in the ectopic P\u2010granules autophagy protein 5 homolog gene (<jats:italic>EPG5<\/jats:italic>), which encodes a key autophagy regulator, are responsible for this syndrome. A 3\u2010year\u2010old Japanese girl manifesting similar symptoms to those found in patients with Vici syndrome showed intractable diarrhea, rather than immunodeficiency. Whole exome sequencing identified only a heterozygous variant in <jats:italic>EPG5<\/jats:italic>, NM_020964.2(EPG5):c.3389A\u2009&gt;\u2009C (p.His1130Pro), which was inherited from her mother. Sequencing analyses of the <jats:italic>EPG5<\/jats:italic> messenger RNA showed only an altered nucleotide \u201cC\u201d at position, c.3389, indicating decreased expression of the wild\u2010type allele. Microarray\u2010based comparative genomic hybridization revealed a de novo microduplication in the exon 1 region. Large exon deletions and duplications of <jats:italic>EPG5<\/jats:italic> have never been reported so far. This was considered the cause of the decreased expression of the wild\u2010type allele. In conclusion, we successfully identified novel compound heterozygous mutations in <jats:italic>EPG5<\/jats:italic> in a patient who was clinically considered to have Vici syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.40500","type":"journal-article","created":{"date-parts":[[2018,8,28]],"date-time":"2018-08-28T11:31:24Z","timestamp":1535455884000},"page":"2803-2807","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Novel compound heterozygous <i>EPG5<\/i> mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome"],"prefix":"10.1002","volume":"176","author":[{"given":"Shino","family":"Shimada","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tokyo Women's Medical University  Tokyo Japan"},{"name":"Institute for Integrated Medical Sciences Tokyo Women's Medical University  Tokyo 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