{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T10:39:52Z","timestamp":1791110392431,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,4,29]],"date-time":"2014-04-29T00:00:00Z","timestamp":1398729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001700","name":"The Ministry of Education, Culture, Sports, Science and Technology of Japan","doi-asserted-by":"crossref","award":["13328635"],"award-info":[{"award-number":["13328635"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p>Eukaryotic elongation factor 1, alpha\u20102 (<jats:styled-content style=\"fixed-case\">eEF1A2<\/jats:styled-content>) protein is involved in protein synthesis, suppression of apoptosis, and regulation of actin function and cytoskeletal structure. <jats:italic><jats:styled-content style=\"fixed-case\">EEF1A2<\/jats:styled-content><\/jats:italic> gene is highly expressed in the central nervous system and <jats:italic>Eef1a2<\/jats:italic> knockout mice show the neuronal degeneration. Until now, only one missense mutation (c.<jats:styled-content style=\"fixed-case\">208G<\/jats:styled-content>\u2009&gt;\u2009A, p.<jats:styled-content style=\"fixed-case\">Gly70Ser<\/jats:styled-content>) in <jats:italic><jats:styled-content style=\"fixed-case\">EEF1A2<\/jats:styled-content><\/jats:italic> has been reported in two independent patients with neurological disease. In this report, we described two patients with <jats:italic>de novo<\/jats:italic> mutations (c.<jats:styled-content style=\"fixed-case\">754G<\/jats:styled-content>\u2009&gt;\u2009C, p.<jats:styled-content style=\"fixed-case\">Asp252His<\/jats:styled-content> and c.<jats:styled-content style=\"fixed-case\">364G<\/jats:styled-content>\u2009&gt;\u2009A, p.<jats:styled-content style=\"fixed-case\">Glu122Lys<\/jats:styled-content>) in <jats:italic><jats:styled-content style=\"fixed-case\">EEF1A2<\/jats:styled-content><\/jats:italic> found by whole\u2010exome sequencing. Common clinical features are shared by all four individuals: severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly. Furthermore, the two patients share the similar characteristic facial features including a depressed nasal bridge, tented upper lip, everted lower lip and downturned corners of the mouth. These data strongly indicate that a new recognizable disorder is caused by <jats:italic><jats:styled-content style=\"fixed-case\">EEF1A2<\/jats:styled-content><\/jats:italic> mutations.<\/jats:p>","DOI":"10.1111\/cge.12394","type":"journal-article","created":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T17:00:53Z","timestamp":1396544453000},"page":"356-361","source":"Crossref","is-referenced-by-count":78,"title":["<i><scp>D<\/scp>e novo <scp>EEF1A2<\/scp><\/i> mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy"],"prefix":"10.1111","volume":"87","author":[{"given":"J.","family":"Nakajima","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"},{"name":"Department of Pediatrics Tokyo Medical University  Shinjuku 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