{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T11:41:24Z","timestamp":1783597284334,"version":"3.55.0"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T00:00:00Z","timestamp":1655424000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Leukodystrophies are a group of heterogeneous disorders affecting brain myelin. Among those, childhood ataxia with central nervous system hypomyelination\/vanishing white matter (CACH\/VWM) is one of the more common inherited leukodystrophies. Pathogenic variants in one of the genes encoding five subunits of EIF2B are associated with CACH\/VWM. Herein, we presented a case of CACH\/VWM who developed ataxia following a minor head injury. Brain magnetic resonance imaging showed extensive white matter signal abnormality. Diagnosis of CACH\/VWM was confirmed by the presence of compound heterozygous variants in <jats:italic>EIF2B3<\/jats:italic>: the previously known pathogenic variant c c.260C&amp;gt;T (<jats:italic>p<\/jats:italic>.Ala87Val) and the novel variant c.673C&amp;gt;T (<jats:italic>p<\/jats:italic>.Arg225Trp). Based on the American College of Medical Genetics (ACMG) recommendations, we classified <jats:italic>p<\/jats:italic>.Arg225Trp as likely pathogenic. We report a novel variant in a patient with CACH\/VWM and highlight the importance of genetic testing in patients with leukodystrophies.<\/jats:p>","DOI":"10.3389\/fgene.2022.893057","type":"journal-article","created":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T05:06:45Z","timestamp":1655442405000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination\/Vanishing White Matter"],"prefix":"10.3389","volume":"13","author":[{"given":"Parith","family":"Wongkittichote","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soe Soe","family":"Mar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert C.","family":"McKinstry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoanh","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,6,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"e2021053126","DOI":"10.1542\/peds.2021-053126","article-title":"Leukodystrophies in Children: Diagnosis, Care, and Treatment","volume":"148","author":"Bonkowsky","year":"2021","journal-title":"Pediatrics"},{"key":"B2","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1212\/wnl.0b013e3181eee46b","article-title":"The Burden of Inherited Leukodystrophies in Children","volume":"75","author":"Bonkowsky","year":"2010","journal-title":"Neurology"},{"key":"B3","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1002\/ana.25287","article-title":"Natural History of Vanishing White Matter","volume":"84","author":"Hamilton","year":"2018","journal-title":"Ann. 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