Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report

Sandro Orru; Ioannis Papoulidis; Elisavet Siomou; Dimitrios T Papadimitriou; Sotirios Sotiriou; Petros Nikolaidis; Makarios Eleftheriades; Evaggelos Papanikolaou; Loretta Thomaidis; Emmanouil Manolakos

doi:10.3892/br.2019.1210

Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report

Biomed Rep. 2019 Jun;1(1):1-5. doi: 10.3892/br.2019.1210. Epub 2019 May 13.

Authors

Affiliations

¹ Department of Medical Genetics, University of Cagliari, Binaghi Hospital, I-09126 Cagliari, Italy.
² ATG P.C., Clinical Laboratory Genetics, Athens 11528, Greece.
³ Department of Pediatric Endocrinology and Diabetes, Athens Medical Center, Athens 15125, Greece.
⁴ Department of Clinical Embryology, Larissa Medical School, University of Thessaly, Larissa 41334, Greece.
⁵ Embryoiatriki-genetiki Ltd., Athens 15125, Greece.
⁶ Second Department of Obstetrics and Gynecology, Aretaieio Hospital, Medical School, National and Kapodistrian University of Athens, Athens 11528, Greece.
⁷ Third Department in Obstetrics and Gynecology, Ippokratio Hospital, Aristotle University of Thessaloniki, Thessaloniki 54642, Greece.
⁸ Developmental Assessment Unit, Second Department of Pediatrics, 'P. & A. Kyriakou' Children's Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens 11527, Greece.

Abstract

In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, anxiety and depression were observed clinical characteristics. Mentioned copy number variants were the shortest in length reported so far. The current study hypothesized that the presence of a susceptibility locus for autism spectrum disorder associated with depression and anxiety may be located in a 200 kb region between the PCNT and PRMT2 genes. The current study aimed to provide insight into the human genome morbidity map of chromosome 21.

Keywords: 21q22.3; anxiety; autism spectrum disorder; depression.