{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:20:02Z","timestamp":1761513602997},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,3,9]],"date-time":"2015-03-09T00:00:00Z","timestamp":1425859200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec><jats:label \/><jats:p>Vanishing White Matter disease (VWM) is an inherited progressive leukoencephalopathy caused by mutations in the genes <jats:italic>EIF2B1\u20135<\/jats:italic>, which encode for the 5 subunits of the eukaryotic initiation factor 2B (eIF2B), a regulator of protein synthesis. VWM typically presents with acute neurological decline following febrile infections or minor head trauma, and subsequent progressive neurological and cognitive regression. There is a varied clinical spectrum of VWM, with earlier onset associated with more severe phenotypes. Brain magnetic resonance imaging is usually diagnostic with diffusely abnormal white matter, progressing over time to cystic degeneration. We are reporting on a patient with infantile onset VWM associated with three heterozygous missense variants in <jats:italic>EIF2B5<\/jats:italic>, including a novel missense variant on exon 6 of <jats:italic>EIF2B5<\/jats:italic> (D262N), as well as an interstitial duplication at 7q21.12. In addition, our case is unusual because of a severe epilepsy course, a novel clinical finding of hypopituitarism manifested by hypothyroidism and adrenal insufficiency, and a prolonged life span with current age of survival of 4 years and 11 months. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36961","type":"journal-article","created":{"date-parts":[[2015,3,10]],"date-time":"2015-03-10T05:03:12Z","timestamp":1425963792000},"page":"826-830","source":"Crossref","is-referenced-by-count":5,"title":["Infantile onset Vanishing White Matter disease associated with a novel <i>EIF2B5<\/i> variant, remarkably long life span, severe epilepsy, and hypopituitarism"],"prefix":"10.1002","volume":"167","author":[{"given":"April L.","family":"Woody","sequence":"first","affiliation":[{"name":"Department of Pediatrics San Antonio Military Medical Center San Antonio Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David T.","family":"Hsieh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Child Neurology San Antonio Military Medical Center San Antonio Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harkirtin K.","family":"McIver","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Endocrinology San Antonio Military Medical Center San Antonio Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda P.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Radiology Division of Pediatric Radiology San Antonio Military Medical Center San Antonio Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Rohena","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Genetics San Antonio Military Medical Center San Antonio Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,3,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-32363"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3181f2eafa"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0340022"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000041666.76863.47"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/375404"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000123259.67815.DB"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10339"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302548"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng764"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.20104"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-006-0683-y"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.10.019"},{"key":"e_1_2_5_16_1","unstructured":"Schiffmann R Fogli A van der Knaap MS Boespfug\u2010Tanguy O. Childhood ataxia with central nervous system hypomyelination\/Vanishing White Matter. In GeneReviews at NCBI Bookshelf: National Library of Medicine National Institutes of Health (database online). Copyright University of Washington Seattle 1993\u20132013. Available athttp:\/\/www.ncbi.nlm.nih.gov. Updated 09.08.2012. 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