{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T02:33:42Z","timestamp":1792982022182,"version":"4.5.0"},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T00:00:00Z","timestamp":1792540800000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Global developmental delay (GDD) and intellectual disability (ID) are neurodevelopmental conditions with significant phenotypic and genetic heterogeneity.\n                      <jats:italic>EEF1D<\/jats:italic>\n                      (OMIM* 130592) has recently been identified as a gene of interest in neurodevelopmental disorders. Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language (NEDTCHAL) (OMIM #621150) is caused by homozygous or compound heterozygous disease\u2010causing variants in the\n                      <jats:italic>EEF1D<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed whole exome sequencing (WES) on an Iranian sibling presenting with global developmental delay, intellectual disability, microcephaly, and failure to thrive. Bioinformatic analysis and Sanger sequencing were used to validate and characterize the identified variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A novel homozygous splicing variant in\n                      <jats:italic>EEF1D<\/jats:italic>\n                      (c.1489\u201026_1493del) was identified in both affected individuals. The variant is predicted to disrupt splicing and cause a frameshift deletion. Previous studies have implicated biallelic\n                      <jats:italic>EEF1D<\/jats:italic>\n                      variants in neurodevelopmental disorders, and this report is the first from the Iranian population and the seventh family to be reported worldwide with this rare condition.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This report provides further evidence for the association between\n                      <jats:italic>EEF1D<\/jats:italic>\n                      variants and neurodevelopmental disorders, expanding the phenotypic spectrum of\n                      <jats:italic>EEF1D<\/jats:italic>\n                      \u2010related conditions. It reinforces the importance of recognizing\n                      <jats:italic>EEF1D<\/jats:italic>\n                      as a key gene involved in developmental delay and intellectual disability.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70287","type":"journal-article","created":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T11:55:47Z","timestamp":1792583747000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>EEF1D<\/i>\n                    \u2010Associated Neurodevelopmental Disorders: Evidence From Iranian Siblings With a Biallelic Splice Junction Loss Variant"],"prefix":"10.1002","volume":"14","author":[{"given":"Maedeh","family":"Ganji","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Isfahan University of Medical Sciences  Isfahan 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Center for Cancer Screening and Epidemiology AJA University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8242-5349","authenticated-orcid":false,"given":"Seyed Mohammad","family":"Kahani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences Tarbiat Modares University  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6381-5290","authenticated-orcid":false,"given":"Behzad","family":"Rezaei","sequence":"additional","affiliation":[{"name":"Institute of Health Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afshin","family":"Fayazi","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, School of Medicine Hamadan University of Medical Sciences  Hamadan 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