{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T16:18:25Z","timestamp":1790266705187,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,3]],"date-time":"2016-02-03T00:00:00Z","timestamp":1454457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004919","name":"King Abdulaziz City for Science and Technology","doi-asserted-by":"publisher","award":["13\u2010BIO1113\u201020"],"award-info":[{"award-number":["13\u2010BIO1113\u201020"]}],"id":[{"id":"10.13039\/501100004919","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>ADAT3\u2010related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus. Other common features included growth failure, microcephaly, tone abnormalities, epilepsy, and nonspecific brain abnormalities. A single homozygous founder mutation (c.382G&gt;A:p.(V128M)) in the <jats:italic>ADAT3<\/jats:italic> gene, which encodes a protein that functions in tRNA editing, was identified in all affected individuals. In this report, we present additional 15 individuals from 11 families (10 Saudis and 1 Emirati) who are homozygous for the same founder mutation. In addition to the universal findings of intellectual disability and strabismus, the majority exhibited microcephaly and growth failure. Additional features not reported in the original cohort include dysmorphic facial features (prominent forehead, up\u2010slanted palpebral fissures, epicanthus, and depressed nasal bridge), behavioral problems (hyperactivity and aggressiveness), recurrent otitis media, and growth hormone deficiency. <jats:italic>ADAT3<\/jats:italic>\u2010related intellectual disability is an important recognizable cause of intellectual disability in Arabia. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37578","type":"journal-article","created":{"date-parts":[[2016,2,4]],"date-time":"2016-02-04T05:19:11Z","timestamp":1454563151000},"page":"1142-1147","source":"Crossref","is-referenced-by-count":37,"title":["<i>ADAT3<\/i>\u2010related intellectual disability: Further delineation of the phenotype"],"prefix":"10.1002","volume":"170","author":[{"given":"Ayman W.","family":"El\u2010Hattab","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics and Metabolic Disorders Department of Pediatrics, Tawam Hospital Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed A.","family":"Saleh","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics Children's Hospital, King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal","family":"Hashem","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, College of Medicine Alfaisal University Riyadh Saudi Arabia"},{"name":"Department of Pediatrics Prince Sultan Military Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Al\u2010Owain","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, College of Medicine Alfaisal University Riyadh Saudi Arabia"},{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Al","family":"Asmari","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics Children's Hospital, King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hala","family":"Rabei","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics and Metabolic Disorders Department of Pediatrics, Tawam Hospital Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanem","family":"Abdelraouf","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Prince Sultan Military Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mais","family":"Hashem","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi 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