{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T22:13:23Z","timestamp":1790633603014,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,6,22]],"date-time":"2016-06-22T00:00:00Z","timestamp":1466553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Institut de Recherche Scientifique en Pathologie et G\u00e9n\u00e9tique"},{"name":"Fonds Marguerite-Marie Delacroix"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>X\u2010chromosome exome sequencing was performed to identify the genetic cause of syndromic intellectual disability in two unrelated families with suspected X\u2010linked inheritance. In both families, affected males presented with severe intellectual disability, microcephaly, growth retardation, and epilepsy. A missense mutation (c.777T&gt;G p.(Ile259Met)) and a frameshift mutation (c.1394_1397del p.(Ile465Serfs*4)) were identified in the <jats:italic>EIF2S3<\/jats:italic> gene in the hemizygous state in affected patients, and in the heterozygous states female obligate carriers. A missense mutation in <jats:italic>EIF2S3<\/jats:italic>, coding for the gamma\u2010subunit of the translation initiation factor eIF2, was reported once in a family presenting with similar clinical features. Morpholino\u2010based knockdown of the zebrafish <jats:italic>EIF2S3<\/jats:italic> ortholog (<jats:italic>eif2s3<\/jats:italic>) recapitulates the human microcephaly and short stature phenotype, supporting the pathogenicity of the identified variants. Our data confirm that <jats:italic>EIF2S3<\/jats:italic> mutation is implicated in a rare, but recognizable, form of syndromic intellectual disability. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37792","type":"journal-article","created":{"date-parts":[[2016,6,23]],"date-time":"2016-06-23T06:48:17Z","timestamp":1466664497000},"page":"2927-2933","source":"Crossref","is-referenced-by-count":56,"title":["Two novel <i>EIF2S3<\/i> mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy"],"prefix":"10.1002","volume":"170","author":[{"given":"St\u00e9phanie","family":"Moortgat","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique Charleroi (Gosselies) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"D\u00e9sir","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine H\u00f4pital Erasme Universit\u00e9 Libre de Bruxelles (ULB) Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Benoit","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique Charleroi (Gosselies) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"Boulanger","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique Charleroi (Gosselies) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Pendeville","sequence":"additional","affiliation":[{"name":"GIGA\u2010Research Zebrafish Platform, Tour B34 Universit\u00e9 de Li\u00e8ge Li\u00e8ge (Sart\u2010Tilman) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010C\u00e9cile","family":"Nassogne","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie Cliniques Universitaires Saint\u2010Luc Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Lederer","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique Charleroi (Gosselies) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Maystadt","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique Charleroi (Gosselies) Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.2337\/db15-0477"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1021\/pr200429y"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2012.09.005"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00358-10"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","unstructured":"Deciphering Developmental Disorders S.2015. 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