{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T16:39:17Z","timestamp":1781800757015,"version":"3.54.5"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T00:00:00Z","timestamp":1702252800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Intellectual disability is a prevalent neurodevelopmental disorder, with the majority of affected children exhibiting global developmental delay before the age of 5\u2009years. In recent years, certain children have been found to carry homozygous variations of the EEF1D<\/jats:italic> gene, leading to autosomal recessive intellectual disability. However, the pathogenicity of compound heterozygous variations in this gene remains largely unknown.<\/jats:p><\/jats:sec>Methods<\/jats:title>Trio whole\u2010exome sequencing and copy number variation sequencing were done for the genetic etiological diagnosis of a 3\u2010year and 11\u2010month\u2010old Chinese boy who presented with brachycephaly, severe to profound global developmental delay, and hypotonia in the lower limbs.<\/jats:p><\/jats:sec>Results<\/jats:title>In this case, compound heterozygous variants of the EEF1D<\/jats:italic> gene were found in the child through trio whole\u2010exome sequencing; one was a splice variant (NM_032378.6:c.1905+1G>A) inherited from his father, and the other was a nonsense variant (NM_032378.6:c.676C>T) inherited from his mother. The nonsense variant leads to the production of a premature termination (p.Gln226*). These variations have the ability to explain the clinical phenotypes of the child.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Our study expands the variation spectrum and provides compelling evidence for EEF1D<\/jats:italic> as a candidate gene for autosomal recessive intellectual disability. However, due to the deficient number of reported cases, researchers need to further study EEF1D<\/jats:italic> and supplement the clinical phenotypes and treatment measures.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2333","type":"journal-article","created":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T20:58:11Z","timestamp":1702414691000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D<\/i><\/scp> gene in a Chinese family"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1242-5543","authenticated-orcid":false,"given":"Jiamei","family":"Zhang","sequence":"first","affiliation":[{"name":"Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongxing","family":"Liu","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingmei","family":"Wang","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiran","family":"Xu","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University Zhengzhou China"},{"name":"Commission Key Laboratory of Birth Defects Prevention Henan Key Laboratory of Population Defects Prevention Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dengna","family":"Zhu","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Yang","sequence":"additional","affiliation":[{"name":"Cipher Gene LLC Beijing 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