{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:30Z","timestamp":1786976850215,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T00:00:00Z","timestamp":1683590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5T32GM008638\u201024"],"award-info":[{"award-number":["5T32GM008638\u201024"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Eukaryotic translation elongation factor 2 (eEF2), encoded by the gene\n                    <jats:italic>EEF2<\/jats:italic>\n                    , is an essential factor involved in the elongation phase of protein translation. A specific heterozygous missense variant (p.P596H) in\n                    <jats:italic>EEF2<\/jats:italic>\n                    was originally identified in association with autosomal dominant adult\u2010onset spinocerebellar ataxia\u201026 (SCA26). More recently, additional heterozygous missense variants in this gene have been described to cause a novel, childhood\u2010onset neurodevelopmental disorder with benign external hydrocephalus. Herein, we report two unrelated individuals with a similar gene\u2010disease correlation to support this latter observation. Patient 1 is a 7\u2010year\u2010old male with a previously reported, de novo missense variant (p.V28M) who has motor and speech delay, autism spectrum disorder, failure to thrive with relative macrocephaly, unilateral microphthalmia with coloboma and eczema. Patient 2 is a 4\u2010year\u2010old female with a novel de novo nonsense variant (p.Q145X) with motor and speech delay, hypotonia, macrocephaly with benign ventricular enlargement, and keratosis pilaris. These additional cases help to further expand the genotypic and phenotypic spectrum of this newly described\n                    <jats:italic>EEF2\u2010<\/jats:italic>\n                    related neurodevelopmental syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63230","type":"journal-article","created":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T17:09:47Z","timestamp":1683738587000},"page":"2602-2609","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Expansion of clinical and variant spectrum of\n                    <i>EEF2<\/i>\n                    \u2010related neurodevelopmental disorder: Report of two additional cases"],"prefix":"10.1002","volume":"191","author":[{"given":"Rose","family":"Guo","sequence":"first","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Pennsylvania Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyssa L.","family":"Rippert","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Pennsylvania Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward B.","family":"Cook","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Pennsylvania Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesar Augusto P.","family":"Alves","sequence":"additional","affiliation":[{"name":"Department of Radiology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4833-3747","authenticated-orcid":false,"given":"Lynne M.","family":"Bird","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California San Diego; Division of Dysmorphology\/Genetics Rady Children's Hospital San Diego  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Pennsylvania Pennsylvania USA"},{"name":"Department of Pediatrics, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-0716-2501-9_13"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2012.09.005"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.08.009"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-21053-2"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2113929118"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds392"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/35104069"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.08.009"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng764"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.15252\/embr.202154543"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aar6731"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37792"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa270"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.11.011"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.160"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23170"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2020.06.061"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10112"},{"issue":"7","key":"e_1_2_8_23_1","article-title":"A comparison of pathogenic eukaryotic elongation factor 2 (EEF2) variants in spinocerebellar ataxia 26 versus de novo mutations","volume":"14","author":"Zhao H.","year":"2022","journal-title":"Cureus"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63230","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,20]],"date-time":"2023-09-20T02:23:57Z","timestamp":1695176637000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63230"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,9]]},"references-count":22,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1002\/ajmg.a.63230"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63230","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,9]]},"assertion":[{"value":"2023-01-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}