Brain Dev 2022 Mar 6;44(3):229-233. Epub 2021 Dec 6.
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan; Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan. Electronic address:
Background: Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome caused by a de novo deletion including the 11p13 region. Although autism spectrum disorder (ASD) is frequently observed in patients with WAGR syndrome, few reports have comprehensively described its characteristics. We herein present the detailed neuropsychological and neurophysiological findings of a patient with WAGR syndrome complicated with severe psychomotor developmental delay and ASD. Read More