title: AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype.
abstract: Here we summarize the clinical and molecular findings in a 68-year-old female with dysmorphic features, mild-to-moderate intellectual disability, and behavioral findings suggesting autism spectrum disorder. SNP array analysis demonstrated a 257 kb deletion comprising exon 6 of AUTS2. This clinical report provides the natural history in the eldest patient yet to be reported, and complements the existing evidence suggesting that disruption of the AUTS2 leads to a recently delineated neurodevelopmental phenotype with a wide spectrum, namely "AUTS2 Syndrome." © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.
authors.forename: Ece
authors.initials: E
authors.lastname: Sengun
authors.affiliation: Duzen Laboratories Group, Istanbul, Turkey.|Maltepe University School of Medicine, Istanbul, Turkey.
authors.forename: Kanay
authors.initials: K
authors.lastname: Yararbas
authors.affiliation: Duzen Laboratories Group, Istanbul, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Kasakyan
authors.affiliation: Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000368:Aged; D003598:Cytoskeletal Proteins; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D014157:Transcription Factors
chemical_list: C554283:AUTS2 protein, human; D003598:Cytoskeletal Proteins; D011506:Proteins; D014157:Transcription Factors
keywords: AUTS2; autism spectrum disorder; developmental delay; intellectual disability