{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T09:31:19Z","timestamp":1785231079050,"version":"3.55.0"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,2]],"date-time":"2023-01-02T00:00:00Z","timestamp":1672617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["EXC 2067\/1\u2010390729940"],"award-info":[{"award-number":["EXC 2067\/1\u2010390729940"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004351","name":"Sultan Qaboos University","doi-asserted-by":"publisher","award":["SR\/MED\/GENT\/16\/01"],"award-info":[{"award-number":["SR\/MED\/GENT\/16\/01"]}],"id":[{"id":"10.13039\/501100004351","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Protein translation is an essential cellular process and dysfunctional protein translation causes various neurodevelopmental disorders. The eukaryotic translation elongation factor 1A (eEF1A) delivers aminoacyl\u2010tRNA to the ribosome, while the eEF1B complex acts as a guanine exchange factor (GEF) of GTP for GDP indirectly catalyzing the release of eEF1A from the ribosome. The gene\n                    <jats:italic>EEF1D<\/jats:italic>\n                    encodes the eEF1B\u03b4 subunit of the eEF1B complex.\n                    <jats:italic>EEF1D<\/jats:italic>\n                    is alternatively spliced giving rise to one long and three short isoforms. Two different homozygous, truncating variants in\n                    <jats:italic>EEF1D<\/jats:italic>\n                    had been associated with severe intellectual disability and microcephaly in two families. The published variants only affect the long isoform of\n                    <jats:italic>EEF1D<\/jats:italic>\n                    that acts as a transcription factor of heat shock element proteins. By exome sequencing, we identified two different homozygous variants in\n                    <jats:italic>EEF1D<\/jats:italic>\n                    in two families with severe developmental delay, severe microcephaly, spasticity, and failure to thrive with optic atrophy, poor feeding, and recurrent aspiration pneumonia. The\n                    <jats:italic>EEF1D<\/jats:italic>\n                    variants reported in this study are localized in the\n                    <jats:italic>C<\/jats:italic>\n                    \u2010terminal GEF domain, suggesting that a disturbed protein translation machinery might contribute to the neurodevelopmental phenotype. Pathogenic variants localized in both the alternatively spliced domain or the GEF domain of\n                    <jats:italic>EEF1D<\/jats:italic>\n                    cause a severe neurodevelopmental disorder with microcephaly and spasticity.\n                  <\/jats:p>","DOI":"10.1111\/cge.14290","type":"journal-article","created":{"date-parts":[[2022,12,28]],"date-time":"2022-12-28T07:28:07Z","timestamp":1672212487000},"page":"484-491","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Expanding the spectrum of\n                    <i>EEF1D<\/i>\n                    neurodevelopmental disorders: Biallelic variants in the guanine exchange domain"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0719-1607","authenticated-orcid":false,"given":"Luisa","family":"Averdunk","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Heinrich\u2010Heine\u2010University D\u00fcsseldorf, Medical Faculty  D\u00fcsseldorf Germany"},{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty University Hospital, Heinrich\u2010Heine\u2010University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al\u2010Thihli","sequence":"additional","affiliation":[{"name":"Department of Genetics, College of Medicine and Health Sciences Sultan Qaboos University  Muscat Oman"},{"name":"Genetic and Developmental Medicine Clinic Sultan Qaboos University Hospital  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Surowy","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heinrich\u2010Heine\u2010University D\u00fcsseldorf, Medical Faculty  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermann\u2010Josef","family":"L\u00fcdecke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heinrich\u2010Heine\u2010University D\u00fcsseldorf, Medical Faculty  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Drechsler","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heinrich\u2010Heine\u2010University D\u00fcsseldorf, Medical Faculty  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2777-0198","authenticated-orcid":false,"given":"G\u00f6khan","family":"Yigit","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"},{"name":"DZHK (German Centre for Cardiovascular Research) Partner Site G\u00f6ttingen, University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukasz","family":"Smorag","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassam","family":"Al Hallak","sequence":"additional","affiliation":[{"name":"Practice for Pediatrics  Kefrenbel Syria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Altm\u00fcller","sequence":"additional","affiliation":[{"name":"Berlin Institute of Health at Charit\u00e9 Universit\u00e4tsmedizin Berlin, Core Facility Genomics  Berlin Germany"},{"name":"BIH\/MDC Genomics Technology Platform Max Delbr\u00fcck Center for Molecular Medicine in the Helmholtz Association (MDC)  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Guthoff","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical Faculty Heinrich Heine University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Wallot","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Bethanien Hospital  Moers Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics (CCG) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"},{"name":"DZHK (German Centre for Cardiovascular Research) Partner Site G\u00f6ttingen, University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany"},{"name":"Cluster of Excellence \u201cMultiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells\u201d (MBExC) University of G\u00f6ttingen  G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rami Abou","family":"Jamra","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Leipzig Medical Center  Leipzig 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