title: ADAT3-related intellectual disability: Further delineation of the phenotype.
abstract: ADAT3-related 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>A:p.(V128M)) in the ADAT3 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-slanted palpebral fissures, epicanthus, and depressed nasal bridge), behavioral problems (hyperactivity and aggressiveness), recurrent otitis media, and growth hormone deficiency. ADAT3-related intellectual disability is an important recognizable cause of intellectual disability in Arabia.
authors: Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
authors: Ayman W
authors: AW
authors: El-Hattab
authors: Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
authors: Mohammed A
authors: MA
authors: Saleh
authors: Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.|Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors: Amal
authors: A
authors: Hashem
authors: Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.|Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors: Mohammed
authors: M
authors: Al-Owain
authors: Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
authors: Ali Al
authors: AA
authors: Asmari
authors: Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
authors: Hala
authors: H
authors: Rabei
authors: Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors: Hanem
authors: H
authors: Abdelraouf
authors: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors: Mais
authors: M
authors: Hashem
authors: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors: Anas M
authors: AM
authors: Alazami
authors: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors: Nisha
authors: N
authors: Patel
authors: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors: Ranad
authors: R
authors: Shaheen
authors: Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
authors: Eissa A
authors: EA
authors: Faqeih
authors: Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.|Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.|Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors: Fowzan S
authors: FS
authors: Alkuraya
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D060825:Cognitive Dysfunction / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D018703:Founder Effect; D013006:Growth Hormone / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D010641:Phenotype; D013285:Strabismus / Q000150:complications / Q000235:genetics* / Q000503:physiopathology
chemical_list: D013006:Growth Hormone; C548482:ADA protein, human; D000243:Adenosine Deaminase
keywords: failure to thrive; growth hormone; intellectual disability; strabismus