AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.170, no.12, pp.3231-3236, 2016 (Peer-Reviewed Journal)
Article / Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Science Citation Index Expanded
AUTS2, intellectual disability, autism spectrum disorder, developmental delay, COMPARATIVE GENOMIC HYBRIDIZATION, AUTISM SPECTRUM DISORDERS, AUTISM-SUSCEPTIBILITY-CANDIDATE-2 AUTS2, DEVELOPMENTAL DELAY, GENE AUTS2, SUSCEPTIBILITY, ASSOCIATION, DELETION, PATIENT, HUMANS
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." (C) 2016 Wiley Periodicals, Inc.